Canonical Allele Identifier: CA2424882696
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403638_38403640delinsAGG , CM000685.2:g.38403638_38403640delinsAGG GRCh38
NC_000023.10:g.38262891_38262893delinsAGG , CM000685.1:g.38262891_38262893delinsAGG GRCh37
NC_000023.9:g.38147835_38147837delinsAGG NCBI36
NG_008471.1:g.56156_56158delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.561_563delinsAGG MANE Select ENSP00000039007.4:p.Lys187=
ENST00000643344.1:c.*311_*313delinsAGG ENSP00000496606.1:n.*311_*313delinsAGG
ENST00000039007.4:c.561_563delinsAGG ENSP00000039007.4:p.Lys187=
ENST00000465127.1:c.172-262483_172-262481delinsAGG ENSP00000417050.1:n.172-262483_172-262481delinsAGG
ENST00000488812.1:n.598_600delinsAGG
NM_000531.5:c.561_563delinsAGG NP_000522.3:p.Lys187=
XM_017029556.1:c.561_563delinsAGG XP_016885045.1:p.Lys187=
NM_000531.6:c.561_563delinsAGG MANE Select NP_000522.3:p.Lys187=
Search 100 bp 5'
Search 100 bp 3'