Canonical Allele Identifier: CA2579584858

Gene: OTC

Linked Data

• gnomAD v4: X-38408712-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408715del , CM000685.2:g.38408715del	GRCh38
NC_000023.10:g.38267968del , CM000685.1:g.38267968del	GRCh37
NC_000023.9:g.38152912del	NCBI36
NG_008471.1:g.61233del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.664-27del MANE Select	ENSP00000039007.4:n.664-27del
ENST00000643344.1:c.*414-27del	ENSP00000496606.1:n.*414-27del
ENST00000039007.4:c.664-27del	ENSP00000039007.4:n.664-27del
ENST00000465127.1:c.172-257406del	ENSP00000417050.1:n.172-257406del
NM_000531.5:c.664-27del	NP_000522.3:n.664-27del
XM_017029556.1:c.664-27del	XP_016885045.1:n.664-27del
NM_000531.6:c.664-27del MANE Select	NP_000522.3:n.664-27del