Canonical Allele Identifier: CA915950006
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 817171
ClinVar RCV Id: RCV001008278
dbSNP Id: rs1597798429
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583347_41583351del , CM000679.2:g.41583347_41583351del GRCh38
NC_000017.10:g.39739599_39739603del , CM000679.1:g.39739599_39739603del GRCh37
NC_000017.9:g.36993125_36993129del NCBI36
NG_008624.1:g.8548_8552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1161_1165del MANE Select ENSP00000167586.6:p.Cys389AspfsTer?
ENST00000167586.6:c.1161_1165del ENSP00000167586.6:p.Cys389AspfsTer?
ENST00000441550.2:n.108_112del
ENST00000476662.1:n.611_615del
NM_000526.4:c.1161_1165del NP_000517.2:p.Cys389AspfsTer?
NM_000526.5:c.1161_1165del MANE Select NP_000517.3:p.Cys389AspfsTer?
Search 100 bp 5'
Search 100 bp 3'