Canonical Allele Identifier: CA2424871729

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369985_38369986delinsGA , CM000685.2:g.38369985_38369986delinsGA	GRCh38
NC_000023.10:g.38229238_38229239delinsGA , CM000685.1:g.38229238_38229239delinsGA	GRCh37
NC_000023.9:g.38114182_38114183delinsGA	NCBI36
NG_008471.1:g.22503_22504delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+108_298+109delinsGA MANE Select	ENSP00000039007.4:n.298+108_298+109delinsGA
ENST00000643344.1:c.298+108_298+109delinsGA	ENSP00000496606.1:n.298+108_298+109delinsGA
ENST00000039007.4:c.298+108_298+109delinsGA	ENSP00000039007.4:n.298+108_298+109delinsGA
ENST00000465127.1:c.172-296136_172-296135delinsGA	ENSP00000417050.1:n.172-296136_172-296135delinsGA
ENST00000488812.1:n.353+145_353+146delinsGA
NM_000531.5:c.298+108_298+109delinsGA	NP_000522.3:n.298+108_298+109delinsGA
XM_017029556.1:c.298+108_298+109delinsGA	XP_016885045.1:n.298+108_298+109delinsGA
NM_000531.6:c.298+108_298+109delinsGA MANE Select	NP_000522.3:n.298+108_298+109delinsGA