Canonical Allele Identifier: CA2693443241

Gene: OTC

Linked Data

• gnomAD v4: X-38409092-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38409094_38409095del , CM000685.2:g.38409094_38409095del	GRCh38
NC_000023.10:g.38268347_38268348del , CM000685.1:g.38268347_38268348del	GRCh37
NC_000023.9:g.38153291_38153292del	NCBI36
NG_008471.1:g.61612_61613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.867+69_867+70del MANE Select	ENSP00000039007.4:n.867+69_867+70del
ENST00000643344.1:c.*617+69_*617+70del	ENSP00000496606.1:n.*617+69_*617+70del
ENST00000039007.4:c.867+69_867+70del	ENSP00000039007.4:n.867+69_867+70del
ENST00000465127.1:c.172-257027_172-257026del	ENSP00000417050.1:n.172-257027_172-257026del
NM_000531.5:c.867+69_867+70del	NP_000522.3:n.867+69_867+70del
XM_017029556.1:c.867+69_867+70del	XP_016885045.1:n.867+69_867+70del
NM_000531.6:c.867+69_867+70del MANE Select	NP_000522.3:n.867+69_867+70del