Canonical Allele Identifier: CA605241245
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v2: 12-53069331-AGAGC-A
gnomAD v4: 12-52675547-AGAGC-A
MyVariant Identifiers: chr12:g.53069332_53069335del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675548_52675551del , CM000674.2:g.52675548_52675551del GRCh38
NC_000012.11:g.53069332_53069335del , CM000674.1:g.53069332_53069335del GRCh37
NC_000012.10:g.51355599_51355602del NCBI36
NG_008364.1:g.9857_9860del
NG_008364.2:g.9857_9860del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1577_1580del MANE Select ENSP00000252244.3:p.Gly526ValfsTer?
NM_006121.3:c.1577_1580del NP_006112.3:p.Gly526ValfsTer?
NM_006121.4:c.1577_1580del MANE Select NP_006112.3:p.Gly526ValfsTer?
Search 100 bp 5'
Search 100 bp 3'