Canonical Allele Identifier: CA2738494019

Gene: OTC

Linked Data

• dbSNP Id: rs2147325114

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369971_38369972del , CM000685.2:g.38369971_38369972del	GRCh38
NC_000023.10:g.38229224_38229225del , CM000685.1:g.38229224_38229225del	GRCh37
NC_000023.9:g.38114168_38114169del	NCBI36
NG_008471.1:g.22489_22490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+94_298+95del MANE Select	ENSP00000039007.4:n.298+94_298+95del
ENST00000643344.1:c.298+94_298+95del	ENSP00000496606.1:n.298+94_298+95del
ENST00000039007.4:c.298+94_298+95del	ENSP00000039007.4:n.298+94_298+95del
ENST00000465127.1:c.172-296150_172-296149del	ENSP00000417050.1:n.172-296150_172-296149del
ENST00000488812.1:n.353+131_353+132del
NM_000531.5:c.298+94_298+95del	NP_000522.3:n.298+94_298+95del
XM_017029556.1:c.298+94_298+95del	XP_016885045.1:n.298+94_298+95del
NM_000531.6:c.298+94_298+95del MANE Select	NP_000522.3:n.298+94_298+95del