Canonical Allele Identifier: CA16619572
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 418765
ClinVar RCV Id: RCV000483766
dbSNP Id: rs1064793417

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492659_52492661del , CM000674.2:g.52492659_52492661del GRCh38
NC_000012.11:g.52886443_52886445del , CM000674.1:g.52886443_52886445del GRCh37
NC_000012.10:g.51172710_51172712del NCBI36
NG_008298.1:g.5738_5740del

Transcript Alleles

HGVS Amino-acid change
ENST00000330722.7:c.529_531del MANE Select ENSP00000369317.3:p.Phe177del
ENST00000330722.6:c.529_531del ENSP00000369317.3:p.Phe177del
ENST00000549898.5:n.50_52del
NM_005554.3:c.529_531del NP_005545.1:p.Phe177del
NM_005554.4:c.529_531del MANE Select NP_005545.1:p.Phe177del