Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
-/A
Location

Chromosome 5: between 132390839 and 132390840 (forward strand) | View in location tab

Most severe consequence
Clinical significance

Synonyms

LSDB 11838

This variation has 10 HGVS names - click the plus to show

5:g.132390839dupA
ENST00000245407.6:c.1202dupA
ENSP00000245407.3:p.Tyr401Ter
ENST00000435065.5:c.1274dupA
ENSP00000402760.2:p.Tyr425Ter
ENST00000475308.1:n.1880dupA
ENST00000461013.4:n.8624dupA
ENST00000447841.4:c.112-1594dupA
ENST00000479605.4:n.305dupA
ENST00000448810.4:c.*54dupA

About this variant

This variant overlaps 10 transcripts and is associated with 1 phenotype.

Variation displays