Canonical Allele Identifier: CA2820487881
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403812_38403813insC , CM000685.2:g.38403812_38403813insC GRCh38
NC_000023.10:g.38263065_38263066insC , CM000685.1:g.38263065_38263066insC GRCh37
NC_000023.9:g.38148009_38148010insC NCBI36
NG_008471.1:g.56330_56331insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+72_663+73insC MANE Select ENSP00000039007.4:n.663+72_663+73insC
ENST00000643344.1:c.*413+72_*413+73insC ENSP00000496606.1:n.*413+72_*413+73insC
ENST00000039007.4:c.663+72_663+73insC ENSP00000039007.4:n.663+72_663+73insC
ENST00000465127.1:c.172-262309_172-262308insC ENSP00000417050.1:n.172-262309_172-262308insC
NM_000531.5:c.663+72_663+73insC NP_000522.3:n.663+72_663+73insC
XM_017029556.1:c.663+72_663+73insC XP_016885045.1:n.663+72_663+73insC
NM_000531.6:c.663+72_663+73insC MANE Select NP_000522.3:n.663+72_663+73insC