Canonical Allele Identifier: CA2580091629
Gene: GNAO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1701291
ClinVar RCV Id: RCV002276030
dbSNP Id: rs2143699590
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56351396_56351398delinsAAA , CM000678.2:g.56351396_56351398delinsAAA GRCh38
NC_000016.9:g.56385308_56385310delinsAAA , CM000678.1:g.56385308_56385310delinsAAA GRCh37
NC_000016.8:g.54942809_54942811delinsAAA NCBI36
NG_042800.1:g.165058_165060delinsAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000262493.12:c.736_738delinsAAA MANE Select ENSP00000262493.6:p.Glu246Lys
ENST00000562316.6:c.403_405delinsAAA ENSP00000457238.2:p.Glu135Lys
ENST00000564727.2:c.40_42delinsAAA ENSP00000454971.2:p.Glu14Lys
ENST00000568375.2:c.116-3470_116-3468delinsAAA
ENST00000638185.1:n.951_953delinsAAA
ENST00000638210.1:n.1036_1038delinsAAA
ENST00000638705.1:c.736_738delinsAAA ENSP00000491223.1:p.Glu246Lys
ENST00000638836.1:n.646_648delinsAAA
ENST00000639055.1:n.1457_1459delinsAAA
ENST00000639251.1:n.637_639delinsAAA
ENST00000639268.1:c.371_373delinsAAA
ENST00000639341.1:c.261_263delinsAAA
ENST00000639770.1:c.774_776delinsAAA ENSP00000491999.1:n.774_776delinsAAA
ENST00000640390.1:n.666_668delinsAAA
ENST00000640469.1:c.100_102delinsAAA ENSP00000491875.1:p.Glu34Lys
ENST00000640560.1:n.512_514delinsAAA
ENST00000640893.1:c.*134_*136delinsAAA ENSP00000492677.1:n.*134_*136delinsAAA
ENST00000262493.10:c.736_738delinsAAA ENSP00000262493.6:p.Glu246Lys
ENST00000568375.1:n.116-3470_116-3468delinsAAA
NM_020988.2:c.736_738delinsAAA NP_066268.1:p.Glu246Lys
XM_011523003.1:c.610_612delinsAAA XP_011521305.1:p.Glu204Lys
XM_011523003.3:c.610_612delinsAAA XP_011521305.1:p.Glu204Lys
NM_020988.3:c.736_738delinsAAA MANE Select NP_066268.1:p.Glu246Lys
Search 100 bp 5'
Search 100 bp 3'