Canonical Allele Identifier: CA2575998034

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336744_56336748del , CM000678.2:g.56336744_56336748del	GRCh38
NC_000016.9:g.56370656_56370660del , CM000678.1:g.56370656_56370660del	GRCh37
NC_000016.8:g.54928157_54928161del	NCBI36
NG_042800.1:g.150406_150410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.607_611del	ENSP00000262494.7:p.Gly203ProfsTer4
ENST00000262493.12:c.607_611del MANE Select	ENSP00000262493.6:p.Gly203ProfsTer4
ENST00000262494.12:c.607_611del	ENSP00000262494.7:p.Gly203ProfsTer4
ENST00000562316.6:c.274_278del	ENSP00000457238.2:p.Gly92ProfsTer4
ENST00000638185.1:n.822_826del
ENST00000638210.1:n.907_911del
ENST00000638705.1:c.607_611del	ENSP00000491223.1:p.Gly203ProfsTer4
ENST00000638836.1:n.517_521del
ENST00000639055.1:n.1328_1332del
ENST00000639251.1:n.508_512del
ENST00000639268.1:c.242_246del
ENST00000639341.1:c.132_136del
ENST00000639770.1:c.645_649del	ENSP00000491999.1:n.645_649del
ENST00000640390.1:n.537_541del
ENST00000640560.1:n.383_387del
ENST00000640893.1:c.*5_*9del	ENSP00000492677.1:n.*5_*9del
ENST00000262493.10:c.607_611del	ENSP00000262493.6:p.Gly203ProfsTer4
ENST00000262494.11:c.607_611del	ENSP00000262494.7:p.Gly203ProfsTer4
NM_020988.2:c.607_611del	NP_066268.1:p.Gly203ProfsTer4
NM_138736.2:c.607_611del	NP_620073.2:p.Gly203ProfsTer4
XM_011523003.1:c.481_485del	XP_011521305.1:p.Gly161ProfsTer4
XM_011523003.3:c.481_485del	XP_011521305.1:p.Gly161ProfsTer4
NM_020988.3:c.607_611del MANE Select	NP_066268.1:p.Gly203ProfsTer4
NM_138736.3:c.607_611del	NP_620073.2:p.Gly203ProfsTer4