Canonical Allele Identifier: CA2695223483

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355001_56355003del , CM000678.2:g.56355001_56355003del	GRCh38
NC_000016.9:g.56388913_56388915del , CM000678.1:g.56388913_56388915del	GRCh37
NC_000016.8:g.54946414_54946416del	NCBI36
NG_042800.1:g.168663_168665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1013_1015del MANE Select	ENSP00000262493.6:p.Ala338del
ENST00000562316.6:c.545-1102_545-1100del	ENSP00000457238.2:n.545-1102_545-1100del
ENST00000564727.2:c.303+14_303+16del	ENSP00000454971.2:n.303+14_303+16del
ENST00000568375.2:c.251_253del
ENST00000638210.1:n.1313_1315del
ENST00000638705.1:c.1013_1015del	ENSP00000491223.1:p.Ala338del
ENST00000638836.1:n.923_925del
ENST00000639251.1:n.914_916del
ENST00000639268.1:c.648_650del
ENST00000639341.1:c.538_540del
ENST00000639770.1:c.1051_1053del	ENSP00000491999.1:n.1051_1053del
ENST00000640390.1:n.943_945del
ENST00000640469.1:c.377_379del	ENSP00000491875.1:p.Ala126del
ENST00000640560.1:n.789_791del
ENST00000640893.1:c.*411_*413del	ENSP00000492677.1:n.*411_*413del
ENST00000262493.10:c.1013_1015del	ENSP00000262493.6:p.Ala338del
ENST00000564727.1:c.233_235del	ENSP00000454971.1:p.Ala78del
ENST00000568375.1:n.251_253del
NM_020988.2:c.1013_1015del	NP_066268.1:p.Ala338del
XM_011523003.1:c.887_889del	XP_011521305.1:p.Ala296del
XM_011523003.3:c.887_889del	XP_011521305.1:p.Ala296del
NM_020988.3:c.1013_1015del MANE Select	NP_066268.1:p.Ala338del