Canonical Allele Identifier: CA2036619103

Gene: KRT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675405_52675486delinsGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC , CM000674.2:g.52675405_52675486delinsGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC	GRCh38
NC_000012.11:g.53069189_53069270delinsGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC , CM000674.1:g.53069189_53069270delinsGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC	GRCh37
NC_000012.10:g.51355456_51355537delinsGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC	NCBI36
NG_008364.1:g.9922_10003delinsGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCC
NG_008364.2:g.9922_10003delinsGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1642_1723delinsGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCC MANE Select	ENSP00000252244.3:p.Gly548=
NM_006121.3:c.1642_1723delinsGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCC	NP_006112.3:p.Gly548=
NM_006121.4:c.1642_1723delinsGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCC MANE Select	NP_006112.3:p.Gly548=