Canonical Allele Identifier: CA2693443219

Gene: OTC

Linked Data

• gnomAD v4: X-38409033-T-TTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38409036_38409038dup , CM000685.2:g.38409036_38409038dup	GRCh38
NC_000023.10:g.38268289_38268291dup , CM000685.1:g.38268289_38268291dup	GRCh37
NC_000023.9:g.38153233_38153235dup	NCBI36
NG_008471.1:g.61554_61556dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.867+11_867+13dup MANE Select	ENSP00000039007.4:n.867+11_867+13dup
ENST00000643344.1:c.*617+11_*617+13dup	ENSP00000496606.1:n.*617+11_*617+13dup
ENST00000039007.4:c.867+11_867+13dup	ENSP00000039007.4:n.867+11_867+13dup
ENST00000465127.1:c.172-257085_172-257083dup	ENSP00000417050.1:n.172-257085_172-257083dup
NM_000531.5:c.867+11_867+13dup	NP_000522.3:n.867+11_867+13dup
XM_017029556.1:c.867+11_867+13dup	XP_016885045.1:n.867+11_867+13dup
NM_000531.6:c.867+11_867+13dup MANE Select	NP_000522.3:n.867+11_867+13dup