Canonical Allele Identifier: CA2693443582

Gene: OTC

Linked Data

• gnomAD v4: X-38381324-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381330_38381334dup , CM000685.2:g.38381330_38381334dup	GRCh38
NC_000023.10:g.38240583_38240587dup , CM000685.1:g.38240583_38240587dup	GRCh37
NC_000023.9:g.38125527_38125531dup	NCBI36
NG_008471.1:g.33848_33852dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.299-12_299-8dup MANE Select	ENSP00000039007.4:n.299-12_299-8dup
ENST00000643344.1:c.*49-12_*49-8dup	ENSP00000496606.1:n.*49-12_*49-8dup
ENST00000039007.4:c.299-12_299-8dup	ENSP00000039007.4:n.299-12_299-8dup
ENST00000465127.1:c.172-284791_172-284787dup	ENSP00000417050.1:n.172-284791_172-284787dup
ENST00000488812.1:n.354-30_354-26dup
NM_000531.5:c.299-12_299-8dup	NP_000522.3:n.299-12_299-8dup
XM_017029556.1:c.299-12_299-8dup	XP_016885045.1:n.299-12_299-8dup
NM_000531.6:c.299-12_299-8dup MANE Select	NP_000522.3:n.299-12_299-8dup