Canonical Allele Identifier: CA2573131702

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401427_38401428delinsCC , CM000685.2:g.38401427_38401428delinsCC	GRCh38
NC_000023.10:g.38260680_38260681delinsCC , CM000685.1:g.38260680_38260681delinsCC	GRCh37
NC_000023.9:g.38145624_38145625delinsCC	NCBI36
NG_008471.1:g.53945_53946delinsCC

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.539_540delinsCC MANE Select	NP_000522.3:p.Gln180Pro
ENST00000039007.5:c.539_540delinsCC MANE Select	ENSP00000039007.4:p.Gln180Pro
NM_000531.5:c.539_540delinsCC	NP_000522.3:p.Gln180Pro
ENST00000039007.4:c.539_540delinsCC	ENSP00000039007.4:p.Gln180Pro
ENST00000465127.1:c.172-264694_172-264693delinsCC	ENSP00000417050.1:n.172-264694_172-264693delinsCC
ENST00000488812.1:n.576_577delinsCC
ENST00000643344.1:c.*289_*290delinsCC	ENSP00000496606.1:n.*289_*290delinsCC
XM_017029556.1:c.539_540delinsCC	XP_016885045.1:p.Gln180Pro