Canonical Allele Identifier: CA2519636987

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408919_38408920insTT , CM000685.2:g.38408919_38408920insTT	GRCh38
NC_000023.10:g.38268172_38268173insTT , CM000685.1:g.38268172_38268173insTT	GRCh37
NC_000023.9:g.38153116_38153117insTT	NCBI36
NG_008471.1:g.61437_61438insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.761_762insTT MANE Select	ENSP00000039007.4:p.His255CysfsTer7
ENST00000643344.1:c.*511_*512insTT	ENSP00000496606.1:n.*511_*512insTT
ENST00000039007.4:c.761_762insTT	ENSP00000039007.4:p.His255CysfsTer7
ENST00000465127.1:c.172-257202_172-257201insTT	ENSP00000417050.1:n.172-257202_172-257201insTT
NM_000531.5:c.761_762insTT	NP_000522.3:p.His255CysfsTer7
XM_017029556.1:c.761_762insTT	XP_016885045.1:p.His255CysfsTer7
NM_000531.6:c.761_762insTT MANE Select	NP_000522.3:p.His255CysfsTer7