Canonical Allele Identifier: CA215083
Gene: KRT6C HGNC NCBI

Linked Data

ClinVar Variation Id: 126525
ClinVar RCV Id: RCV000057500
dbSNP Id: rs267607474
COSMIC: COSM940739
MyVariant Identifiers: chr12:g.52867004_52867006del (hg19) chr12:g.52473220_52473222del (hg38)
PubMed: PMID:19609311
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52473226_52473228del , CM000674.2:g.52473226_52473228del GRCh38
NC_000012.11:g.52867010_52867012del , CM000674.1:g.52867010_52867012del GRCh37
NC_000012.10:g.51153277_51153279del NCBI36
NG_012416.1:g.5564_5566del

Transcript Alleles

HGVS Amino-acid change
ENST00000252250.7:c.516_518del MANE Select ENSP00000252250.6:p.Asn172del
ENST00000252250.6:c.516_518del ENSP00000252250.6:p.Asn172del
NM_173086.4:c.516_518del NP_775109.2:p.Asn172del
NM_173086.5:c.516_518del MANE Select NP_775109.2:p.Asn172del
Search 100 bp 5'
Search 100 bp 3'