Canonical Allele Identifier: CA6581795
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs761176669
ExAC: 12:52881756 AC / A
gnomAD v2: 12-52881756-AC-A
gnomAD v4: 12-52487972-AC-A
MyVariant Identifiers: chr12:g.52881757del (hg19) chr12:g.52487973del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487973del , CM000674.2:g.52487973del GRCh38
NC_000012.11:g.52881757del , CM000674.1:g.52881757del GRCh37
NC_000012.10:g.51168024del NCBI36
NG_008298.1:g.10425del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1460-18del MANE Select ENSP00000369317.3:n.1460-18del
ENST00000330722.6:c.1460-18del ENSP00000369317.3:n.1460-18del
NM_005554.3:c.1460-18del NP_005545.1:n.1460-18del
NM_005554.4:c.1460-18del MANE Select NP_005545.1:n.1460-18del
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Search 100 bp 3'