Canonical Allele Identifier: CA2036619109
Gene: KRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675414_52675435delinsCGCCACCTCCAGAGCCATAGCT , CM000674.2:g.52675414_52675435delinsCGCCACCTCCAGAGCCATAGCT GRCh38
NC_000012.11:g.53069198_53069219delinsCGCCACCTCCAGAGCCATAGCT , CM000674.1:g.53069198_53069219delinsCGCCACCTCCAGAGCCATAGCT GRCh37
NC_000012.10:g.51355465_51355486delinsCGCCACCTCCAGAGCCATAGCT NCBI36
NG_008364.1:g.9973_9994delinsAGCTATGGCTCTGGAGGTGGCG
NG_008364.2:g.9973_9994delinsAGCTATGGCTCTGGAGGTGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1693_1714delinsAGCTATGGCTCTGGAGGTGGCG MANE Select ENSP00000252244.3:p.Ser565=
NM_006121.3:c.1693_1714delinsAGCTATGGCTCTGGAGGTGGCG NP_006112.3:p.Ser565=
NM_006121.4:c.1693_1714delinsAGCTATGGCTCTGGAGGTGGCG MANE Select NP_006112.3:p.Ser565=