Canonical Allele Identifier: CA2836057101
Gene: KRT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492660del , CM000674.2:g.52492660del GRCh38
NC_000012.11:g.52886444del , CM000674.1:g.52886444del GRCh37
NC_000012.10:g.51172711del NCBI36
NG_008298.1:g.5739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.530del MANE Select ENSP00000369317.3:p.Phe177SerfsTer30
ENST00000330722.6:c.530del ENSP00000369317.3:p.Phe177SerfsTer30
ENST00000549898.5:n.51del
NM_005554.3:c.530del NP_005545.1:p.Phe177SerfsTer30
NM_005554.4:c.530del MANE Select NP_005545.1:p.Phe177SerfsTer30