Canonical Allele Identifier: CA2596669791
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v3: 12-52675446-GA-G
gnomAD v4: 12-52675446-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675447del , CM000674.2:g.52675447del GRCh38
NC_000012.11:g.53069231del , CM000674.1:g.53069231del GRCh37
NC_000012.10:g.51355498del NCBI36
NG_008364.1:g.9961del
NG_008364.2:g.9961del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1681del MANE Select ENSP00000252244.3:p.Ser561ProfsTer?
NM_006121.3:c.1681del NP_006112.3:p.Ser561ProfsTer?
NM_006121.4:c.1681del MANE Select NP_006112.3:p.Ser561ProfsTer?
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