Canonical Allele Identifier: CA2618946376
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675457-G-GCCAC
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675458_52675459insCACC , CM000674.2:g.52675458_52675459insCACC GRCh38
NC_000012.11:g.53069242_53069243insCACC , CM000674.1:g.53069242_53069243insCACC GRCh37
NC_000012.10:g.51355509_51355510insCACC NCBI36
NG_008364.1:g.9950_9951insGTGG
NG_008364.2:g.9950_9951insGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1670_1671insGTGG MANE Select ENSP00000252244.3:p.Ser557ArgfsTer?
NM_006121.3:c.1670_1671insGTGG NP_006112.3:p.Ser557ArgfsTer?
NM_006121.4:c.1670_1671insGTGG MANE Select NP_006112.3:p.Ser557ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'