Canonical Allele Identifier: CA2618946352
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675442-TCCGG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675443_52675446del , CM000674.2:g.52675443_52675446del GRCh38
NC_000012.11:g.53069227_53069230del , CM000674.1:g.53069227_53069230del GRCh37
NC_000012.10:g.51355494_51355497del NCBI36
NG_008364.1:g.9962_9965del
NG_008364.2:g.9962_9965del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1682_1685del MANE Select ENSP00000252244.3:p.Ser561Ter
NM_006121.3:c.1682_1685del NP_006112.3:p.Ser561Ter
NM_006121.4:c.1682_1685del MANE Select NP_006112.3:p.Ser561Ter
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