Canonical Allele Identifier: CA2695233324

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408942_38408950dup , CM000685.2:g.38408942_38408950dup	GRCh38
NC_000023.10:g.38268195_38268203dup , CM000685.1:g.38268195_38268203dup	GRCh37
NC_000023.9:g.38153139_38153147dup	NCBI36
NG_008471.1:g.61460_61468dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.784_792dup MANE Select	ENSP00000039007.4:p.Thr264_Trp265insThrAspThr
ENST00000643344.1:c.*534_*542dup	ENSP00000496606.1:n.*534_*542dup
ENST00000039007.4:c.784_792dup	ENSP00000039007.4:p.Thr264_Trp265insThrAspThr
ENST00000465127.1:c.172-257179_172-257171dup	ENSP00000417050.1:n.172-257179_172-257171dup
NM_000531.5:c.784_792dup	NP_000522.3:p.Thr264_Trp265insThrAspThr
XM_017029556.1:c.784_792dup	XP_016885045.1:p.Thr264_Trp265insThrAspThr
NM_000531.6:c.784_792dup MANE Select	NP_000522.3:p.Thr264_Trp265insThrAspThr