Canonical Allele Identifier: CA2695216974
Gene: KRT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488342_52488346delinsTACC , CM000674.2:g.52488342_52488346delinsTACC GRCh38
NC_000012.11:g.52882126_52882130delinsTACC , CM000674.1:g.52882126_52882130delinsTACC GRCh37
NC_000012.10:g.51168393_51168397delinsTACC NCBI36
NG_008298.1:g.10052_10056delinsGGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1406_1410delinsGGTA MANE Select ENSP00000369317.3:p.Leu469ArgfsTer2
ENST00000330722.6:c.1406_1410delinsGGTA ENSP00000369317.3:p.Leu469ArgfsTer2
NM_005554.3:c.1406_1410delinsGGTA NP_005545.1:p.Leu469ArgfsTer2
NM_005554.4:c.1406_1410delinsGGTA MANE Select NP_005545.1:p.Leu469ArgfsTer2