Canonical Allele Identifier: CA605241237
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1172668391
gnomAD v2: 12-53069198-C-CGCCACCTCCAGAGCCATAGCT
gnomAD v4: 12-52675414-C-CGCCACCTCCAGAGCCATAGCT
MyVariant Identifiers: chr12:g.53069219_53069220insGCCACCTCCAGAGCCATAGCT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675424_52675444dup , CM000674.2:g.52675424_52675444dup GRCh38
NC_000012.11:g.53069208_53069228dup , CM000674.1:g.53069208_53069228dup GRCh37
NC_000012.10:g.51355475_51355495dup NCBI36
NG_008364.1:g.9973_9993dup
NG_008364.2:g.9973_9993dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1693_1713dup MANE Select ENSP00000252244.3:p.Gly571_Gly572insSerTyrGlySerGlyGlyGly
NM_006121.3:c.1693_1713dup NP_006112.3:p.Gly571_Gly572insSerTyrGlySerGlyGlyGly
NM_006121.4:c.1693_1713dup MANE Select NP_006112.3:p.Gly571_Gly572insSerTyrGlySerGlyGlyGly
Search 100 bp 5'
Search 100 bp 3'