Canonical Allele Identifier: CA2618930426
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52492531-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492532del , CM000674.2:g.52492532del GRCh38
NC_000012.11:g.52886316del , CM000674.1:g.52886316del GRCh37
NC_000012.10:g.51172583del NCBI36
NG_008298.1:g.5866del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.540+117del MANE Select ENSP00000369317.3:n.540+117del
ENST00000330722.6:c.540+117del ENSP00000369317.3:n.540+117del
ENST00000549898.5:n.61+117del
NM_005554.3:c.540+117del NP_005545.1:n.540+117del
NM_005554.4:c.540+117del MANE Select NP_005545.1:n.540+117del
Search 100 bp 5'
Search 100 bp 3'