Canonical Allele Identifier: CA2036619115

Gene: KRT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675424_52675466delinsAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCG , CM000674.2:g.52675424_52675466delinsAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCG	GRCh38
NC_000012.11:g.53069208_53069250delinsAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCG , CM000674.1:g.53069208_53069250delinsAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCG	GRCh37
NC_000012.10:g.51355475_51355517delinsAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCG	NCBI36
NG_008364.1:g.9942_9984delinsCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCT
NG_008364.2:g.9942_9984delinsCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1662_1704delinsCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCT MANE Select	ENSP00000252244.3:p.Ser554=
NM_006121.3:c.1662_1704delinsCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCT	NP_006112.3:p.Ser554=
NM_006121.4:c.1662_1704delinsCGGAGGTAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCT MANE Select	NP_006112.3:p.Ser554=