Canonical Allele Identifier: CA2820489848

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381337del , CM000685.2:g.38381337del	GRCh38
NC_000023.10:g.38240590del , CM000685.1:g.38240590del	GRCh37
NC_000023.9:g.38125534del	NCBI36
NG_008471.1:g.33855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.299-5del MANE Select	ENSP00000039007.4:n.299-5del
ENST00000643344.1:c.*49-5del	ENSP00000496606.1:n.*49-5del
ENST00000039007.4:c.299-5del	ENSP00000039007.4:n.299-5del
ENST00000465127.1:c.172-284784del	ENSP00000417050.1:n.172-284784del
ENST00000488812.1:n.354-23del
NM_000531.5:c.299-5del	NP_000522.3:n.299-5del
XM_017029556.1:c.299-5del	XP_016885045.1:n.299-5del
NM_000531.6:c.299-5del MANE Select	NP_000522.3:n.299-5del