Canonical Allele Identifier: CA2618928162
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52488284-GAAGATGGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488285_52488292del , CM000674.2:g.52488285_52488292del GRCh38
NC_000012.11:g.52882069_52882076del , CM000674.1:g.52882069_52882076del GRCh37
NC_000012.10:g.51168336_51168343del NCBI36
NG_008298.1:g.10106_10113del

Transcript Alleles

HGVS Amino-acid change
ENST00000330722.7:c.1424+36_1424+43del MANE Select ENSP00000369317.3:n.1424+36_1424+43del
ENST00000330722.6:c.1424+36_1424+43del ENSP00000369317.3:n.1424+36_1424+43del
NM_005554.3:c.1424+36_1424+43del NP_005545.1:n.1424+36_1424+43del
NM_005554.4:c.1424+36_1424+43del MANE Select NP_005545.1:n.1424+36_1424+43del
Search 100 bp 5'
Search 100 bp 3'