Canonical Allele Identifier: CA2579584743

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369850_38369851del , CM000685.2:g.38369850_38369851del	GRCh38
NC_000023.10:g.38229103_38229104del , CM000685.1:g.38229103_38229104del	GRCh37
NC_000023.9:g.38114047_38114048del	NCBI36
NG_008471.1:g.22368_22369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.271_272del MANE Select	ENSP00000039007.4:p.Thr91SerfsTer?
ENST00000643344.1:c.271_272del	ENSP00000496606.1:p.Thr91SerfsTer10
ENST00000039007.4:c.271_272del	ENSP00000039007.4:p.Thr91SerfsTer?
ENST00000465127.1:c.172-296271_172-296270del	ENSP00000417050.1:n.172-296271_172-296270del
ENST00000488812.1:n.353+10_353+11del
NM_000531.5:c.271_272del	NP_000522.3:p.Thr91SerfsTer?
XM_017029556.1:c.271_272del	XP_016885045.1:p.Thr91SerfsTer?
NM_000531.6:c.271_272del MANE Select	NP_000522.3:p.Thr91SerfsTer?