Canonical Allele Identifier: CA2618946341
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675438-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675439del , CM000674.2:g.52675439del GRCh38
NC_000012.11:g.53069223del , CM000674.1:g.53069223del GRCh37
NC_000012.10:g.51355490del NCBI36
NG_008364.1:g.9969del
NG_008364.2:g.9969del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1689del MANE Select ENSP00000252244.3:p.Gly564AlafsTer?
NM_006121.3:c.1689del NP_006112.3:p.Gly564AlafsTer?
NM_006121.4:c.1689del MANE Select NP_006112.3:p.Gly564AlafsTer?
Search 100 bp 5'
Search 100 bp 3'