Canonical Allele Identifier: CA605241235
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1565646235
gnomAD v2: 12-53069195-C-CGCCGCCACCTCCAGAGCCATA
gnomAD v3: 12-52675411-C-CGCCGCCACCTCCAGAGCCATA
gnomAD v4: 12-52675411-C-CGCCGCCACCTCCAGAGCCATA
MyVariant Identifiers: chr12:g.53069195_53069196insGCCGCCACCTCCAGAGCCATA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675414_52675434dup , CM000674.2:g.52675414_52675434dup GRCh38
NC_000012.11:g.53069198_53069218dup , CM000674.1:g.53069198_53069218dup GRCh37
NC_000012.10:g.51355465_51355485dup NCBI36
NG_008364.1:g.9976_9996dup
NG_008364.2:g.9976_9996dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1696_1716dup MANE Select ENSP00000252244.3:p.Gly572_Gly573insTyrGlySerGlyGlyGlyGly
NM_006121.3:c.1696_1716dup NP_006112.3:p.Gly572_Gly573insTyrGlySerGlyGlyGlyGly
NM_006121.4:c.1696_1716dup MANE Select NP_006112.3:p.Gly572_Gly573insTyrGlySerGlyGlyGlyGly
Search 100 bp 5'
Search 100 bp 3'