Canonical Allele Identifier: CA912996272
Gene: KRT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487951_52487953del , CM000674.2:g.52487951_52487953del GRCh38
NC_000012.11:g.52881735_52881737del , CM000674.1:g.52881735_52881737del GRCh37
NC_000012.10:g.51168002_51168004del NCBI36
NG_008298.1:g.10448_10450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1465_1467del MANE Select ENSP00000369317.3:p.Val489del
ENST00000330722.6:c.1465_1467del ENSP00000369317.3:p.Val489del
NM_005554.3:c.1465_1467del NP_005545.1:p.Val489del
NM_005554.4:c.1465_1467del MANE Select NP_005545.1:p.Val489del