Canonical Allele Identifier: CA2573332412

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1469197
• ClinVar RCV Id: RCV001972962 ; RCV002274241
• dbSNP Id: rs2143705016

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355017_56355019del , CM000678.2:g.56355017_56355019del	GRCh38
NC_000016.9:g.56388929_56388931del , CM000678.1:g.56388929_56388931del	GRCh37
NC_000016.8:g.54946430_54946432del	NCBI36
NG_042800.1:g.168679_168681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1029_1031del MANE Select	ENSP00000262493.6:p.Ile344del
ENST00000562316.6:c.545-1086_545-1084del	ENSP00000457238.2:n.545-1086_545-1084del
ENST00000564727.2:c.303+30_303+32del	ENSP00000454971.2:n.303+30_303+32del
ENST00000568375.2:c.267_269del
ENST00000638210.1:n.1329_1331del
ENST00000638705.1:c.1029_1031del	ENSP00000491223.1:p.Ile344del
ENST00000638836.1:n.939_941del
ENST00000639251.1:n.930_932del
ENST00000639268.1:c.664_666del
ENST00000639341.1:c.554_556del
ENST00000639770.1:c.1067_1069del	ENSP00000491999.1:n.1067_1069del
ENST00000640390.1:n.959_961del
ENST00000640469.1:c.393_395del	ENSP00000491875.1:p.Ile132del
ENST00000640560.1:n.805_807del
ENST00000640893.1:c.*427_*429del	ENSP00000492677.1:n.*427_*429del
ENST00000262493.10:c.1029_1031del	ENSP00000262493.6:p.Ile344del
ENST00000564727.1:c.249_251del	ENSP00000454971.1:p.Ile84del
ENST00000568375.1:n.267_269del
NM_020988.2:c.1029_1031del	NP_066268.1:p.Ile344del
XM_011523003.1:c.903_905del	XP_011521305.1:p.Ile302del
XM_011523003.3:c.903_905del	XP_011521305.1:p.Ile302del
NM_020988.3:c.1029_1031del MANE Select	NP_066268.1:p.Ile344del