Canonical Allele Identifier: CA2424882608

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403436_38403445delinsCGTTTTTGGG , CM000685.2:g.38403436_38403445delinsCGTTTTTGGG	GRCh38
NC_000023.10:g.38262689_38262698delinsCGTTTTTGGG , CM000685.1:g.38262689_38262698delinsCGTTTTTGGG	GRCh37
NC_000023.9:g.38147633_38147642delinsCGTTTTTGGG	NCBI36
NG_008471.1:g.55954_55963delinsCGTTTTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-182_541-173delinsCGTTTTTGGG MANE Select	ENSP00000039007.4:n.541-182_541-173delinsCGTTTTTGGG
ENST00000643344.1:c.*291-182_*291-173delinsCGTTTTTGGG	ENSP00000496606.1:n.*291-182_*291-173delinsCGTTTTTGGG
ENST00000039007.4:c.541-182_541-173delinsCGTTTTTGGG	ENSP00000039007.4:n.541-182_541-173delinsCGTTTTTGGG
ENST00000465127.1:c.172-262685_172-262676delinsCGTTTTTGGG	ENSP00000417050.1:n.172-262685_172-262676delinsCGTTTTTGGG
ENST00000488812.1:n.578-182_578-173delinsCGTTTTTGGG
NM_000531.5:c.541-182_541-173delinsCGTTTTTGGG	NP_000522.3:n.541-182_541-173delinsCGTTTTTGGG
XM_017029556.1:c.541-182_541-173delinsCGTTTTTGGG	XP_016885045.1:n.541-182_541-173delinsCGTTTTTGGG
NM_000531.6:c.541-182_541-173delinsCGTTTTTGGG MANE Select	NP_000522.3:n.541-182_541-173delinsCGTTTTTGGG