Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
CTT/-
Location

Chromosome 1:201361972-201361974 (forward strand) | View in location tab

Most severe consequence
 
Inframe deletion
Evidence status

Clinical significance

Synonyms

LSDB 5868

This variant has 27 HGVS names - click the plus to show

1:g.201361972_201361974delCTT
ENST00000491504.5:n.1868_1870delAGA
ENST00000367318.9:c.629_631delAGA
ENSP00000356287.5:p.Lys210del
ENST00000458432.6:c.443_445delAGA
ENSP00000387874.3:p.Lys148del
ENST00000460780.5:n.952_954delAGA
ENST00000367317.8:c.611_613delAGA
ENSP00000356286.5:p.Lys204del
ENST00000367315.6:c.638_640delAGA
ENSP00000356284.3:p.Lys213del
ENST00000360372.8:c.530_532delAGA
ENSP00000353535.5:p.Lys177del
ENST00000509001.5:c.629_631delAGA
ENSP00000422031.1:p.Lys210del
ENST00000421663.6:c.443_445delAGA
ENSP00000404134.3:p.Lys148del
ENST00000367322.5:c.620_622delAGA
ENSP00000356291.1:p.Lys207del
ENST00000438742.5:c.611_613delAGA
ENSP00000414036.1:p.Lys204del
ENST00000476888.5:n.114_116delAGA
ENST00000367320.6:c.530_532delAGA
ENSP00000356289.2:p.Lys177del
ENST00000515042.5:n.555_557delAGA
ENST00000236918.11:c.659_661delAGA
ENSP00000236918.8:p.Lys220del

About this variant

This variant overlaps 23 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays