Canonical Allele Identifier: CA2695233328
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408971_38408972delinsC , CM000685.2:g.38408971_38408972delinsC GRCh38
NC_000023.10:g.38268224_38268225delinsC , CM000685.1:g.38268224_38268225delinsC GRCh37
NC_000023.9:g.38153168_38153169delinsC NCBI36
NG_008471.1:g.61489_61490delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.813_814delinsC MANE Select ENSP00000039007.4:p.Glu271AspfsTer18
ENST00000643344.1:c.*563_*564delinsC ENSP00000496606.1:n.*563_*564delinsC
ENST00000039007.4:c.813_814delinsC ENSP00000039007.4:p.Glu271AspfsTer18
ENST00000465127.1:c.172-257150_172-257149delinsC ENSP00000417050.1:n.172-257150_172-257149delinsC
NM_000531.5:c.813_814delinsC NP_000522.3:p.Glu271AspfsTer18
XM_017029556.1:c.813_814delinsC XP_016885045.1:p.Glu271AspfsTer18
NM_000531.6:c.813_814delinsC MANE Select NP_000522.3:p.Glu271AspfsTer18
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