Canonical Allele Identifier: CA2424871803

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38370189_38370190delinsTA , CM000685.2:g.38370189_38370190delinsTA	GRCh38
NC_000023.10:g.38229442_38229443delinsTA , CM000685.1:g.38229442_38229443delinsTA	GRCh37
NC_000023.9:g.38114386_38114387delinsTA	NCBI36
NG_008471.1:g.22707_22708delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+312_298+313delinsTA MANE Select	ENSP00000039007.4:n.298+312_298+313delinsTA
ENST00000643344.1:c.298+312_298+313delinsTA	ENSP00000496606.1:n.298+312_298+313delinsTA
ENST00000039007.4:c.298+312_298+313delinsTA	ENSP00000039007.4:n.298+312_298+313delinsTA
ENST00000465127.1:c.172-295932_172-295931delinsTA	ENSP00000417050.1:n.172-295932_172-295931delinsTA
ENST00000488812.1:n.353+349_353+350delinsTA
NM_000531.5:c.298+312_298+313delinsTA	NP_000522.3:n.298+312_298+313delinsTA
XM_017029556.1:c.298+312_298+313delinsTA	XP_016885045.1:n.298+312_298+313delinsTA
NM_000531.6:c.298+312_298+313delinsTA MANE Select	NP_000522.3:n.298+312_298+313delinsTA