Canonical Allele Identifier: CA2618930619
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52492649-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492651del , CM000674.2:g.52492651del GRCh38
NC_000012.11:g.52886435del , CM000674.1:g.52886435del GRCh37
NC_000012.10:g.51172702del NCBI36
NG_008298.1:g.5748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.539del MANE Select ENSP00000369317.3:p.Lys180ArgfsTer27
ENST00000330722.6:c.539del ENSP00000369317.3:p.Lys180ArgfsTer27
ENST00000549898.5:n.60del
NM_005554.3:c.539del NP_005545.1:p.Lys180ArgfsTer27
NM_005554.4:c.539del MANE Select NP_005545.1:p.Lys180ArgfsTer27
Search 100 bp 5'
Search 100 bp 3'