Canonical Allele Identifier: CA2424870847

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367428_38367429delinsAG , CM000685.2:g.38367428_38367429delinsAG	GRCh38
NC_000023.10:g.38226681_38226682delinsAG , CM000685.1:g.38226681_38226682delinsAG	GRCh37
NC_000023.9:g.38111625_38111626delinsAG	NCBI36
NG_008471.1:g.19946_19947delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.215_216delinsAG MANE Select	ENSP00000039007.4:p.Glu72=
ENST00000643344.1:c.215_216delinsAG	ENSP00000496606.1:p.Glu72=
ENST00000039007.4:c.215_216delinsAG	ENSP00000039007.4:p.Glu72=
ENST00000465127.1:c.172-298693_172-298692delinsAG	ENSP00000417050.1:n.172-298693_172-298692delinsAG
ENST00000488812.1:n.307_308delinsAG
NM_000531.5:c.215_216delinsAG	NP_000522.3:p.Glu72=
XM_017029556.1:c.215_216delinsAG	XP_016885045.1:p.Glu72=
NM_000531.6:c.215_216delinsAG MANE Select	NP_000522.3:p.Glu72=