Canonical Allele Identifier: CA2693442978

Gene: OTC

Linked Data

• gnomAD v4: X-38403483-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403490dup , CM000685.2:g.38403490dup	GRCh38
NC_000023.10:g.38262743dup , CM000685.1:g.38262743dup	GRCh37
NC_000023.9:g.38147687dup	NCBI36
NG_008471.1:g.56008dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-128dup MANE Select	ENSP00000039007.4:n.541-128dup
ENST00000643344.1:c.*291-128dup	ENSP00000496606.1:n.*291-128dup
ENST00000039007.4:c.541-128dup	ENSP00000039007.4:n.541-128dup
ENST00000465127.1:c.172-262631dup	ENSP00000417050.1:n.172-262631dup
ENST00000488812.1:n.578-128dup
NM_000531.5:c.541-128dup	NP_000522.3:n.541-128dup
XM_017029556.1:c.541-128dup	XP_016885045.1:n.541-128dup
NM_000531.6:c.541-128dup MANE Select	NP_000522.3:n.541-128dup