Canonical Allele Identifier: CA2579584703

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367285_38367286del , CM000685.2:g.38367285_38367286del	GRCh38
NC_000023.10:g.38226538_38226539del , CM000685.1:g.38226538_38226539del	GRCh37
NC_000023.9:g.38111482_38111483del	NCBI36
NG_008471.1:g.19803_19804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.78-6_78-5del MANE Select	ENSP00000039007.4:n.78-6_78-5del
ENST00000643344.1:c.78-6_78-5del	ENSP00000496606.1:n.78-6_78-5del
ENST00000039007.4:c.78-6_78-5del	ENSP00000039007.4:n.78-6_78-5del
ENST00000465127.1:c.172-298836_172-298835del	ENSP00000417050.1:n.172-298836_172-298835del
ENST00000488812.1:n.170-6_170-5del
NM_000531.5:c.78-6_78-5del	NP_000522.3:n.78-6_78-5del
XM_017029556.1:c.78-6_78-5del	XP_016885045.1:n.78-6_78-5del
NM_000531.6:c.78-6_78-5del MANE Select	NP_000522.3:n.78-6_78-5del