Canonical Allele Identifier: CA2424884253

Gene: OTC

Linked Data

• dbSNP Id: rs2068527481
• gnomAD v4: X-38408658-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408659del , CM000685.2:g.38408659del	GRCh38
NC_000023.10:g.38267912del , CM000685.1:g.38267912del	GRCh37
NC_000023.9:g.38152856del	NCBI36
NG_008471.1:g.61177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.664-83del MANE Select	ENSP00000039007.4:n.664-83del
ENST00000643344.1:c.*414-83del	ENSP00000496606.1:n.*414-83del
ENST00000039007.4:c.664-83del	ENSP00000039007.4:n.664-83del
ENST00000465127.1:c.172-257462del	ENSP00000417050.1:n.172-257462del
NM_000531.5:c.664-83del	NP_000522.3:n.664-83del
XM_017029556.1:c.664-83del	XP_016885045.1:n.664-83del
NM_000531.6:c.664-83del MANE Select	NP_000522.3:n.664-83del