Canonical Allele Identifier: CA217357

Gene: KRT6A

Linked Data

• ClinVar Variation Id: 14634
• ClinVar RCV Id: RCV000015740 ; RCV000057012
• dbSNP Id: rs606231214
• MyVariant Identifiers: chr12:g.52886455_52886457del (hg19) ; chr12:g.52492671_52492673del (hg38)
• PubMed: PMID:7493030 ; PMID:7545493 ; PMID:11886499 ; PMID:16250206 ; PMID:20301457

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52492677_52492679del , CM000674.2:g.52492677_52492679del	GRCh38
NC_000012.11:g.52886461_52886463del , CM000674.1:g.52886461_52886463del	GRCh37
NC_000012.10:g.51172728_51172730del	NCBI36
NG_008298.1:g.5725_5727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.516_518del MANE Select	ENSP00000369317.3:p.Asn172del
ENST00000330722.6:c.516_518del	ENSP00000369317.3:p.Asn172del
ENST00000549898.5:n.37_39del
NM_005554.3:c.516_518del	NP_005545.1:p.Asn172del
NM_005554.4:c.516_518del MANE Select	NP_005545.1:p.Asn172del