Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
AA/GC/GAA/GGC
Location

Chromosome 3:37089130-37089131 (forward strand) | View in location tab

Co-located

with PhenCode MMR_c.1852_1853delAAinsGC (AA/GC), MMR_c.1852_1853delinsGC (AA/GC), MMR_complex_17 (AA/PhenCode_variation), MMR_complex_18 (AA/PhenCode_variation)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 60 HGVS names - click the plus to show

Variant allele GGC
3:g.37089130_37089131delAAinsGGC
ENST00000455445.2:c.1129_1130delAAinsGGC
ENSP00000398272.2:p.Lys377GlyfsTer3
ENST00000458205.2:c.1129_1130delAAinsGGC
ENSP00000402667.2:p.Lys377GlyfsTer3
ENST00000413740.1:c.291-2847_291-2846delAAinsGGC
ENST00000435176.1:c.1558_1559delAAinsGGC
ENSP00000402564.1:p.Lys520GlyfsTer3
ENST00000536378.1:c.1129_1130delAAinsGGC
ENSP00000444286.1:p.Lys377GlyfsTer3
ENST00000231790.2:c.1852_1853delAAinsGGC
ENSP00000231790.2:p.Lys618GlyfsTer3
ENST00000456676.2:c.1827_1828delAAinsGGC
ENSP00000416687.2:p.Lys610GlyfsTer3
ENST00000539477.1:c.1129_1130delAAinsGGC
ENSP00000443665.1:p.Lys377GlyfsTer3
ENST00000450420.1:c.182-2847_182-2846delAAinsGGC
LRG_216:g.59290_59291delAAinsGGC
LRG_216t1.1:c.1852_1853delAAinsGGC
LRG_216p1.1:p.Lys618GlyfsTer3

Variant allele GAA
3:g.37089130_37089131delAAinsGAA
ENST00000455445.2:c.1129_1130delAAinsGAA
ENSP00000398272.2:p.Lys377GlufsTer3
ENST00000458205.2:c.1129_1130delAAinsGAA
ENSP00000402667.2:p.Lys377GlufsTer3
ENST00000413740.1:c.291-2847_291-2846delAAinsGAA
ENST00000435176.1:c.1558_1559delAAinsGAA
ENSP00000402564.1:p.Lys520GlufsTer3
ENST00000536378.1:c.1129_1130delAAinsGAA
ENSP00000444286.1:p.Lys377GlufsTer3
ENST00000231790.2:c.1852_1853delAAinsGAA
ENSP00000231790.2:p.Lys618GlufsTer3
ENST00000456676.2:c.1827_1828delAAinsGAA
ENSP00000416687.2:p.Lys610GlufsTer3
ENST00000539477.1:c.1129_1130delAAinsGAA
ENSP00000443665.1:p.Lys377GlufsTer3
ENST00000450420.1:c.182-2847_182-2846delAAinsGAA
LRG_216:g.59290_59291delAAinsGAA
LRG_216t1.1:c.1852_1853delAAinsGAA
LRG_216p1.1:p.Lys618GlufsTer3

Variant allele GC
3:g.37089130_37089131delAAinsGC
ENST00000455445.2:c.1129_1130delAAinsGC
ENSP00000398272.2:p.Lys377Ala
ENST00000458205.2:c.1129_1130delAAinsGC
ENSP00000402667.2:p.Lys377Ala
ENST00000413740.1:c.291-2847_291-2846delAAinsGC
ENST00000435176.1:c.1558_1559delAAinsGC
ENSP00000402564.1:p.Lys520Ala
ENST00000536378.1:c.1129_1130delAAinsGC
ENSP00000444286.1:p.Lys377Ala
ENST00000231790.2:c.1852_1853delAAinsGC
ENSP00000231790.2:p.Lys618Ala
ENST00000456676.2:c.1827_1828delAAinsGC
ENSP00000416687.2:p.Lys610Ala
ENST00000539477.1:c.1129_1130delAAinsGC
ENSP00000443665.1:p.Lys377Ala
ENST00000450420.1:c.182-2847_182-2846delAAinsGC
LRG_216:g.59290_59291delAAinsGC
LRG_216t1.1:c.1852_1853delAAinsGC
LRG_216p1.1:p.Lys618Ala

Variation displays