Canonical Allele Identifier: CA2695216975
Gene: KRT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488356_52488358dup , CM000674.2:g.52488356_52488358dup GRCh38
NC_000012.11:g.52882140_52882142dup , CM000674.1:g.52882140_52882142dup GRCh37
NC_000012.10:g.51168407_51168409dup NCBI36
NG_008298.1:g.10040_10042dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1394_1396dup MANE Select ENSP00000369317.3:p.Tyr465_Arg466insHis
ENST00000330722.6:c.1394_1396dup ENSP00000369317.3:p.Tyr465_Arg466insHis
NM_005554.3:c.1394_1396dup NP_005545.1:p.Tyr465_Arg466insHis
NM_005554.4:c.1394_1396dup MANE Select NP_005545.1:p.Tyr465_Arg466insHis