Canonical Allele Identifier: CA2693442888

Gene: OTC

Linked Data

• dbSNP Id: rs2147341526
• gnomAD v4: X-38401451-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401455del , CM000685.2:g.38401455del	GRCh38
NC_000023.10:g.38260708del , CM000685.1:g.38260708del	GRCh37
NC_000023.9:g.38145652del	NCBI36
NG_008471.1:g.53973del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.540+27del MANE Select	ENSP00000039007.4:n.540+27del
ENST00000643344.1:c.*290+27del	ENSP00000496606.1:n.*290+27del
ENST00000039007.4:c.540+27del	ENSP00000039007.4:n.540+27del
ENST00000465127.1:c.172-264666del	ENSP00000417050.1:n.172-264666del
ENST00000488812.1:n.577+27del
NM_000531.5:c.540+27del	NP_000522.3:n.540+27del
XM_017029556.1:c.540+27del	XP_016885045.1:n.540+27del
NM_000531.6:c.540+27del MANE Select	NP_000522.3:n.540+27del