Canonical Allele Identifier: CA2695223479

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351390_56351391delinsCG , CM000678.2:g.56351390_56351391delinsCG	GRCh38
NC_000016.9:g.56385302_56385303delinsCG , CM000678.1:g.56385302_56385303delinsCG	GRCh37
NC_000016.8:g.54942803_54942804delinsCG	NCBI36
NG_042800.1:g.165052_165053delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.730_731delinsCG MANE Select	ENSP00000262493.6:p.Met244Arg
ENST00000562316.6:c.397_398delinsCG	ENSP00000457238.2:p.Met133Arg
ENST00000564727.2:c.34_35delinsCG	ENSP00000454971.2:p.Met12Arg
ENST00000568375.2:c.116-3476_116-3475delinsCG
ENST00000638185.1:n.945_946delinsCG
ENST00000638210.1:n.1030_1031delinsCG
ENST00000638705.1:c.730_731delinsCG	ENSP00000491223.1:p.Met244Arg
ENST00000638836.1:n.640_641delinsCG
ENST00000639055.1:n.1451_1452delinsCG
ENST00000639251.1:n.631_632delinsCG
ENST00000639268.1:c.365_366delinsCG
ENST00000639341.1:c.255_256delinsCG
ENST00000639770.1:c.768_769delinsCG	ENSP00000491999.1:n.768_769delinsCG
ENST00000640390.1:n.660_661delinsCG
ENST00000640469.1:c.94_95delinsCG	ENSP00000491875.1:p.Met32Arg
ENST00000640560.1:n.506_507delinsCG
ENST00000640893.1:c.*128_*129delinsCG	ENSP00000492677.1:n.*128_*129delinsCG
ENST00000262493.10:c.730_731delinsCG	ENSP00000262493.6:p.Met244Arg
ENST00000568375.1:n.116-3476_116-3475delinsCG
NM_020988.2:c.730_731delinsCG	NP_066268.1:p.Met244Arg
XM_011523003.1:c.604_605delinsCG	XP_011521305.1:p.Met202Arg
XM_011523003.3:c.604_605delinsCG	XP_011521305.1:p.Met202Arg
NM_020988.3:c.730_731delinsCG MANE Select	NP_066268.1:p.Met244Arg