Canonical Allele Identifier: CA2424870761
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367186_38367189delinsAAAG , CM000685.2:g.38367186_38367189delinsAAAG GRCh38
NC_000023.10:g.38226439_38226442delinsAAAG , CM000685.1:g.38226439_38226442delinsAAAG GRCh37
NC_000023.9:g.38111383_38111386delinsAAAG NCBI36
NG_008471.1:g.19704_19707delinsAAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-105_78-102delinsAAAG MANE Select ENSP00000039007.4:n.78-105_78-102delinsAA...
ENST00000643344.1:c.78-105_78-102delinsAAAG ENSP00000496606.1:n.78-105_78-102delinsAA...
ENST00000039007.4:c.78-105_78-102delinsAAAG ENSP00000039007.4:n.78-105_78-102delinsAA...
ENST00000465127.1:c.172-298935_172-298932delinsAAAG ENSP00000417050.1:n.172-298935_172-298932...
ENST00000488812.1:n.170-105_170-102delinsAAAG
NM_000531.5:c.78-105_78-102delinsAAAG NP_000522.3:n.78-105_78-102delinsAAAG
XM_017029556.1:c.78-105_78-102delinsAAAG XP_016885045.1:n.78-105_78-102delinsAAAG
NM_000531.6:c.78-105_78-102delinsAAAG MANE Select NP_000522.3:n.78-105_78-102delinsAAAG