Canonical Allele Identifier: CA216652
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66204
ClinVar RCV Id: RCV000056549
dbSNP Id: rs267607434

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516780_52516794del , CM000674.2:g.52516780_52516794del GRCh38
NC_000012.11:g.52910564_52910578del , CM000674.1:g.52910564_52910578del GRCh37
NC_000012.10:g.51196831_51196845del NCBI36
NG_008297.1:g.8669_8683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1285_1299del MANE Select ENSP00000252242.4:p.Arg429_Ala433del
ENST00000252242.8:c.1285_1299del ENSP00000252242.4:p.Arg429_Ala433del
ENST00000547890.5:n.663_677del
ENST00000548409.5:c.407_421del
ENST00000549511.5:n.492_506del
ENST00000552629.5:n.1383_1397del
NM_000424.3:c.1285_1299del NP_000415.2:p.Arg429_Ala433del
NM_000424.4:c.1285_1299del MANE Select NP_000415.2:p.Arg429_Ala433del