Canonical Allele Identifier: CA2580617964
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 2579370
ClinVar RCV Id: RCV003327805

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624267_41624268delinsGA , CM000679.2:g.41624267_41624268delinsGA GRCh38
NC_000017.10:g.39780519_39780520delinsGA , CM000679.1:g.39780519_39780520delinsGA GRCh37
NC_000017.9:g.37034045_37034046delinsGA NCBI36
NG_008625.1:g.5363_5364delinsTC
NG_009090.2:g.167445_167446delinsTC , LRG_401:g.167445_167446delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.242_243delinsTC MANE Select ENSP00000308452.8:p.Ala81Val
ENST00000311208.12:c.242_243delinsTC ENSP00000308452.8:p.Ala81Val
ENST00000463128.5:c.-312-62_-312-61delinsTC ENSP00000468672.1:n.-312-62_-312-61delinsTC
ENST00000491673.1:n.308_309delinsTC
ENST00000493253.5:n.29_30delinsTC
ENST00000540235.5:c.37_38delinsTC ENSP00000441751.2:p.Leu13Ser
ENST00000577817.3:c.197_198delinsTC ENSP00000467418.1:p.Ala66Val
NM_000422.2:c.242_243delinsTC NP_000413.1:p.Ala81Val
NM_000422.3:c.242_243delinsTC MANE Select NP_000413.1:p.Ala81Val