Canonical Allele Identifier: CA2036520264
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1938185489
gnomAD v4: 12-52488274-CAGGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488276_52488279del , CM000674.2:g.52488276_52488279del GRCh38
NC_000012.11:g.52882060_52882063del , CM000674.1:g.52882060_52882063del GRCh37
NC_000012.10:g.51168327_51168330del NCBI36
NG_008298.1:g.10120_10123del

Transcript Alleles

HGVS Amino-acid change
ENST00000330722.7:c.1424+50_1424+53del MANE Select ENSP00000369317.3:n.1424+50_1424+53del
ENST00000330722.6:c.1424+50_1424+53del ENSP00000369317.3:n.1424+50_1424+53del
NM_005554.3:c.1424+50_1424+53del NP_005545.1:n.1424+50_1424+53del
NM_005554.4:c.1424+50_1424+53del MANE Select NP_005545.1:n.1424+50_1424+53del
Search 100 bp 5'
Search 100 bp 3'