Canonical Allele Identifier: CA2693443920

Gene: OTC

Linked Data

• gnomAD v4: X-38421048-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38421050del , CM000685.2:g.38421050del	GRCh38
NC_000023.10:g.38280303del , CM000685.1:g.38280303del	GRCh37
NC_000023.9:g.38165247del	NCBI36
NG_008471.1:g.73568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.1033del MANE Select	ENSP00000039007.4:p.Tyr345ThrfsTer?
ENST00000643344.1:c.*783del	ENSP00000496606.1:n.*783del
ENST00000039007.4:c.1033del	ENSP00000039007.4:p.Tyr345ThrfsTer?
ENST00000465127.1:c.172-245071del	ENSP00000417050.1:n.172-245071del
NM_000531.5:c.1033del	NP_000522.3:p.Tyr345ThrfsTer?
NM_000531.6:c.1033del MANE Select	NP_000522.3:p.Tyr345ThrfsTer?