Canonical Allele Identifier: CA2036619112
Gene: KRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675417_52675459delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT , CM000674.2:g.52675417_52675459delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT GRCh38
NC_000012.11:g.53069201_53069243delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT , CM000674.1:g.53069201_53069243delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT GRCh37
NC_000012.10:g.51355468_51355510delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT NCBI36
NG_008364.1:g.9949_9991delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG
NG_008364.2:g.9949_9991delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1669_1711delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG MANE Select ENSP00000252244.3:p.Ser557=
NM_006121.3:c.1669_1711delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG NP_006112.3:p.Ser557=
NM_006121.4:c.1669_1711delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG MANE Select NP_006112.3:p.Ser557=