Canonical Allele Identifier: CA2796003416
Gene: KRT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675451_52675452insCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCA , CM000674.2:g.52675451_52675452insCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCA GRCh38
NC_000012.11:g.53069235_53069236insCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCA , CM000674.1:g.53069235_53069236insCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCA GRCh37
NC_000012.10:g.51355502_51355503insCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCA NCBI36
NG_008364.1:g.9956_9957insTGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAG
NG_008364.2:g.9956_9957insTGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1676_1677insTGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAG MANE Select ENSP00000252244.3:p.Tyr559_Gly560insGlySerGlyGlyGlyGlyGlyGlyH...
NM_006121.3:c.1676_1677insTGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAG NP_006112.3:p.Tyr559_Gly560insGlySerGlyGlyGlyGlyGlyGlyHisGlyS...
NM_006121.4:c.1676_1677insTGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAG MANE Select NP_006112.3:p.Tyr559_Gly560insGlySerGlyGlyGlyGlyGlyGlyHisGlyS...
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