Canonical Allele Identifier: CA2502214426
Gene: CYP2C9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94988933_94988934insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG , CM000672.2:g.94988933_94988934insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG GRCh38
NC_000010.10:g.96748690_96748691insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG , CM000672.1:g.96748690_96748691insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG GRCh37
NC_000010.9:g.96738680_96738681insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG NCBI36
NG_008385.1:g.55276_55277insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG
NG_008385.2:g.55776_55777insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000260682.8:c.1378_1379insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG MANE Select ENSP00000260682.6:p.Ser460LeufsTer10
ENST00000643112.1:c.*387_*388insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG ENSP00000496202.1:n.*387_*388insTATGTGTTTATATATATTTCTCTCATTAG...
ENST00000260682.6:c.1378_1379insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG ENSP00000260682.6:p.Ser460LeufsTer10
NM_000771.3:c.1378_1379insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG NP_000762.2:p.Ser460LeufsTer10
NM_000771.4:c.1378_1379insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG MANE Select NP_000762.2:p.Ser460LeufsTer10