Canonical Allele Identifier: CA2579584807

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401459del , CM000685.2:g.38401459del	GRCh38
NC_000023.10:g.38260712del , CM000685.1:g.38260712del	GRCh37
NC_000023.9:g.38145656del	NCBI36
NG_008471.1:g.53977del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.540+31del MANE Select	ENSP00000039007.4:n.540+31del
ENST00000643344.1:c.*290+31del	ENSP00000496606.1:n.*290+31del
ENST00000039007.4:c.540+31del	ENSP00000039007.4:n.540+31del
ENST00000465127.1:c.172-264662del	ENSP00000417050.1:n.172-264662del
ENST00000488812.1:n.577+31del
NM_000531.5:c.540+31del	NP_000522.3:n.540+31del
XM_017029556.1:c.540+31del	XP_016885045.1:n.540+31del
NM_000531.6:c.540+31del MANE Select	NP_000522.3:n.540+31del