Canonical Allele Identifier: CA2424884375
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408971_38408974delinsAGAG , CM000685.2:g.38408971_38408974delinsAGAG GRCh38
NC_000023.10:g.38268224_38268227delinsAGAG , CM000685.1:g.38268224_38268227delinsAGAG GRCh37
NC_000023.9:g.38153168_38153171delinsAGAG NCBI36
NG_008471.1:g.61489_61492delinsAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.813_816delinsAGAG MANE Select ENSP00000039007.4:p.Glu271=
ENST00000643344.1:c.*563_*566delinsAGAG ENSP00000496606.1:n.*563_*566delinsAGAG
ENST00000039007.4:c.813_816delinsAGAG ENSP00000039007.4:p.Glu271=
ENST00000465127.1:c.172-257150_172-257147delinsAGAG ENSP00000417050.1:n.172-257150_172-257147delinsAGAG
NM_000531.5:c.813_816delinsAGAG NP_000522.3:p.Glu271=
XM_017029556.1:c.813_816delinsAGAG XP_016885045.1:p.Glu271=
NM_000531.6:c.813_816delinsAGAG MANE Select NP_000522.3:p.Glu271=
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