Canonical Allele Identifier: CA2036619197
Gene: KRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675527_52675554delinsGAGCCATAGCTGCTACCTCCAGAGCCGT , CM000674.2:g.52675527_52675554delinsGAGCCATAGCTGCTACCTCCAGAGCCGT GRCh38
NC_000012.11:g.53069311_53069338delinsGAGCCATAGCTGCTACCTCCAGAGCCGT , CM000674.1:g.53069311_53069338delinsGAGCCATAGCTGCTACCTCCAGAGCCGT GRCh37
NC_000012.10:g.51355578_51355605delinsGAGCCATAGCTGCTACCTCCAGAGCCGT NCBI36
NG_008364.1:g.9854_9881delinsACGGCTCTGGAGGTAGCAGCTATGGCTC
NG_008364.2:g.9854_9881delinsACGGCTCTGGAGGTAGCAGCTATGGCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1574_1601delinsACGGCTCTGGAGGTAGCAGCTATGGCTC MANE Select ENSP00000252244.3:p.Tyr525=
NM_006121.3:c.1574_1601delinsACGGCTCTGGAGGTAGCAGCTATGGCTC NP_006112.3:p.Tyr525=
NM_006121.4:c.1574_1601delinsACGGCTCTGGAGGTAGCAGCTATGGCTC MANE Select NP_006112.3:p.Tyr525=