Canonical Allele Identifier: CA2224102505

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336809_56336811delinsCTG , CM000678.2:g.56336809_56336811delinsCTG	GRCh38
NC_000016.9:g.56370721_56370723delinsCTG , CM000678.1:g.56370721_56370723delinsCTG	GRCh37
NC_000016.8:g.54928222_54928224delinsCTG	NCBI36
NG_042800.1:g.150471_150473delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.672_674delinsCTG	ENSP00000262494.7:p.Phe224=
ENST00000262493.12:c.672_674delinsCTG MANE Select	ENSP00000262493.6:p.Phe224=
ENST00000262494.12:c.672_674delinsCTG	ENSP00000262494.7:p.Phe224=
ENST00000562316.6:c.339_341delinsCTG	ENSP00000457238.2:p.Phe113=
ENST00000568375.2:c.64_66delinsCTG
ENST00000638185.1:n.887_889delinsCTG
ENST00000638210.1:n.972_974delinsCTG
ENST00000638705.1:c.672_674delinsCTG	ENSP00000491223.1:p.Phe224=
ENST00000638836.1:n.582_584delinsCTG
ENST00000639055.1:n.1393_1395delinsCTG
ENST00000639251.1:n.573_575delinsCTG
ENST00000639268.1:c.307_309delinsCTG
ENST00000639341.1:c.197_199delinsCTG
ENST00000639770.1:c.710_712delinsCTG	ENSP00000491999.1:n.710_712delinsCTG
ENST00000640390.1:n.602_604delinsCTG
ENST00000640469.1:c.36_38delinsCTG	ENSP00000491875.1:p.Phe12=
ENST00000640560.1:n.448_450delinsCTG
ENST00000640893.1:c.*70_*72delinsCTG	ENSP00000492677.1:n.*70_*72delinsCTG
ENST00000262493.10:c.672_674delinsCTG	ENSP00000262493.6:p.Phe224=
ENST00000262494.11:c.672_674delinsCTG	ENSP00000262494.7:p.Phe224=
ENST00000568375.1:n.64_66delinsCTG
NM_020988.2:c.672_674delinsCTG	NP_066268.1:p.Phe224=
NM_138736.2:c.672_674delinsCTG	NP_620073.2:p.Phe224=
XM_011523003.1:c.546_548delinsCTG	XP_011521305.1:p.Phe182=
XM_011523003.3:c.546_548delinsCTG	XP_011521305.1:p.Phe182=
NM_020988.3:c.672_674delinsCTG MANE Select	NP_066268.1:p.Phe224=
NM_138736.3:c.672_674delinsCTG	NP_620073.2:p.Phe224=