Canonical Allele Identifier: CA2554915941
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367295_38367296insT , CM000685.2:g.38367295_38367296insT GRCh38
NC_000023.10:g.38226548_38226549insT , CM000685.1:g.38226548_38226549insT GRCh37
NC_000023.9:g.38111492_38111493insT NCBI36
NG_008471.1:g.19813_19814insT

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.82_83insT MANE Select ENSP00000039007.4:p.Gly28ValfsTer7
ENST00000643344.1:c.82_83insT ENSP00000496606.1:p.Gly28ValfsTer7
ENST00000039007.4:c.82_83insT ENSP00000039007.4:p.Gly28ValfsTer7
ENST00000465127.1:c.172-298826_172-298825insT ENSP00000417050.1:n.172-298826_172-298825...
ENST00000488812.1:n.174_175insT
NM_000531.5:c.82_83insT NP_000522.3:p.Gly28ValfsTer7
XM_017029556.1:c.82_83insT XP_016885045.1:p.Gly28ValfsTer7
NM_000531.6:c.82_83insT MANE Select NP_000522.3:p.Gly28ValfsTer7