Canonical Allele Identifier: CA2565429048
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369934_38369935insA , CM000685.2:g.38369934_38369935insA GRCh38
NC_000023.10:g.38229187_38229188insA , CM000685.1:g.38229187_38229188insA GRCh37
NC_000023.9:g.38114131_38114132insA NCBI36
NG_008471.1:g.22452_22453insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+57_298+58insA MANE Select ENSP00000039007.4:n.298+57_298+58insA
ENST00000643344.1:c.298+57_298+58insA ENSP00000496606.1:n.298+57_298+58insA
ENST00000039007.4:c.298+57_298+58insA ENSP00000039007.4:n.298+57_298+58insA
ENST00000465127.1:c.172-296187_172-296186insA ENSP00000417050.1:n.172-296187_172-296186insA
ENST00000488812.1:n.353+94_353+95insA
NM_000531.5:c.298+57_298+58insA NP_000522.3:n.298+57_298+58insA
XM_017029556.1:c.298+57_298+58insA XP_016885045.1:n.298+57_298+58insA
NM_000531.6:c.298+57_298+58insA MANE Select NP_000522.3:n.298+57_298+58insA