Canonical Allele Identifier: CA2695233327

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408957dup , CM000685.2:g.38408957dup	GRCh38
NC_000023.10:g.38268210dup , CM000685.1:g.38268210dup	GRCh37
NC_000023.9:g.38153154dup	NCBI36
NG_008471.1:g.61475dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.799dup MANE Select	ENSP00000039007.4:p.Ser267LysfsTer26
ENST00000643344.1:c.*549dup	ENSP00000496606.1:n.*549dup
ENST00000039007.4:c.799dup	ENSP00000039007.4:p.Ser267LysfsTer26
ENST00000465127.1:c.172-257164dup	ENSP00000417050.1:n.172-257164dup
NM_000531.5:c.799dup	NP_000522.3:p.Ser267LysfsTer26
XM_017029556.1:c.799dup	XP_016885045.1:p.Ser267LysfsTer?
NM_000531.6:c.799dup MANE Select	NP_000522.3:p.Ser267LysfsTer26