Canonical Allele Identifier: CA2695216973
Gene: KRT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488336dup , CM000674.2:g.52488336dup GRCh38
NC_000012.11:g.52882120dup , CM000674.1:g.52882120dup GRCh37
NC_000012.10:g.51168387dup NCBI36
NG_008298.1:g.10063dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1417dup MANE Select ENSP00000369317.3:p.Glu473GlyfsTer?
ENST00000330722.6:c.1417dup ENSP00000369317.3:p.Glu473GlyfsTer?
NM_005554.3:c.1417dup NP_005545.1:p.Glu473GlyfsTer?
NM_005554.4:c.1417dup MANE Select NP_005545.1:p.Glu473GlyfsTer?