Canonical Allele Identifier: CA2759533410

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401337_38401339del , CM000685.2:g.38401337_38401339del	GRCh38
NC_000023.10:g.38260590_38260592del , CM000685.1:g.38260590_38260592del	GRCh37
NC_000023.9:g.38145534_38145536del	NCBI36
NG_008471.1:g.53855_53857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.449_451del MANE Select	ENSP00000039007.4:p.Thr150_Leu151delinsMet
ENST00000643344.1:c.*199_*201del	ENSP00000496606.1:n.*199_*201del
ENST00000039007.4:c.449_451del	ENSP00000039007.4:p.Thr150_Leu151delinsMet
ENST00000465127.1:c.172-264784_172-264782del	ENSP00000417050.1:n.172-264784_172-264782del
ENST00000488812.1:n.486_488del
NM_000531.5:c.449_451del	NP_000522.3:p.Thr150_Leu151delinsMet
XM_017029556.1:c.449_451del	XP_016885045.1:p.Thr150_Leu151delinsMet
NM_000531.6:c.449_451del MANE Select	NP_000522.3:p.Thr150_Leu151delinsMet