Canonical Allele Identifier: CA2695216972
Gene: KRT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488339_52488344del , CM000674.2:g.52488339_52488344del GRCh38
NC_000012.11:g.52882123_52882128del , CM000674.1:g.52882123_52882128del GRCh37
NC_000012.10:g.51168390_51168395del NCBI36
NG_008298.1:g.10058_10063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1412_1417del MANE Select ENSP00000369317.3:p.Gly471_Glu472del
ENST00000330722.6:c.1412_1417del ENSP00000369317.3:p.Gly471_Glu472del
NM_005554.3:c.1412_1417del NP_005545.1:p.Gly471_Glu472del
NM_005554.4:c.1412_1417del MANE Select NP_005545.1:p.Gly471_Glu472del