Canonical Allele Identifier: CA2693443375

Gene: OTC

Linked Data

• gnomAD v4: X-38369832-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369837del , CM000685.2:g.38369837del	GRCh38
NC_000023.10:g.38229090del , CM000685.1:g.38229090del	GRCh37
NC_000023.9:g.38114034del	NCBI36
NG_008471.1:g.22355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.258del MANE Select	ENSP00000039007.4:p.Phe86LeufsTer?
ENST00000643344.1:c.258del	ENSP00000496606.1:p.Phe86LeufsTer17
ENST00000039007.4:c.258del	ENSP00000039007.4:p.Phe86LeufsTer?
ENST00000465127.1:c.172-296284del	ENSP00000417050.1:n.172-296284del
ENST00000488812.1:n.350del
NM_000531.5:c.258del	NP_000522.3:p.Phe86LeufsTer?
XM_017029556.1:c.258del	XP_016885045.1:p.Phe86LeufsTer?
NM_000531.6:c.258del MANE Select	NP_000522.3:p.Phe86LeufsTer?