Canonical Allele Identifier: CA2693443089

Gene: OTC

Linked Data

• gnomAD v4: X-38403809-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403816dup , CM000685.2:g.38403816dup	GRCh38
NC_000023.10:g.38263069dup , CM000685.1:g.38263069dup	GRCh37
NC_000023.9:g.38148013dup	NCBI36
NG_008471.1:g.56334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.663+76dup MANE Select	ENSP00000039007.4:n.663+76dup
ENST00000643344.1:c.*413+76dup	ENSP00000496606.1:n.*413+76dup
ENST00000039007.4:c.663+76dup	ENSP00000039007.4:n.663+76dup
ENST00000465127.1:c.172-262305dup	ENSP00000417050.1:n.172-262305dup
NM_000531.5:c.663+76dup	NP_000522.3:n.663+76dup
XM_017029556.1:c.663+76dup	XP_016885045.1:n.663+76dup
NM_000531.6:c.663+76dup MANE Select	NP_000522.3:n.663+76dup