Canonical Allele Identifier: CA2424870815

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367347_38367348delinsTA , CM000685.2:g.38367347_38367348delinsTA	GRCh38
NC_000023.10:g.38226600_38226601delinsTA , CM000685.1:g.38226600_38226601delinsTA	GRCh37
NC_000023.9:g.38111544_38111545delinsTA	NCBI36
NG_008471.1:g.19865_19866delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.134_135delinsTA MANE Select	ENSP00000039007.4:p.Leu45=
ENST00000643344.1:c.134_135delinsTA	ENSP00000496606.1:p.Leu45=
ENST00000039007.4:c.134_135delinsTA	ENSP00000039007.4:p.Leu45=
ENST00000465127.1:c.172-298774_172-298773delinsTA	ENSP00000417050.1:n.172-298774_172-298773delinsTA
ENST00000488812.1:n.226_227delinsTA
NM_000531.5:c.134_135delinsTA	NP_000522.3:p.Leu45=
XM_017029556.1:c.134_135delinsTA	XP_016885045.1:p.Leu45=
NM_000531.6:c.134_135delinsTA MANE Select	NP_000522.3:p.Leu45=