Canonical Allele Identifier: CA977621348

Gene: GNAO1

Linked Data

• dbSNP Id: rs2037923834
• gnomAD v3: 16-56351758-ATG-A
• gnomAD v4: 16-56351758-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351762_56351763del , CM000678.2:g.56351762_56351763del	GRCh38
NC_000016.9:g.56385674_56385675del , CM000678.1:g.56385674_56385675del	GRCh37
NC_000016.8:g.54943175_54943176del	NCBI36
NG_042800.1:g.165424_165425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.877+225_877+226del MANE Select	ENSP00000262493.6:n.877+225_877+226del
ENST00000562316.6:c.544+225_544+226del	ENSP00000457238.2:n.544+225_544+226del
ENST00000564727.2:c.181+225_181+226del	ENSP00000454971.2:n.181+225_181+226del
ENST00000568375.2:c.116-3104_116-3103del
ENST00000638185.1:n.1092+225_1092+226del
ENST00000638210.1:n.1177+225_1177+226del
ENST00000638705.1:c.877+225_877+226del	ENSP00000491223.1:n.877+225_877+226del
ENST00000638836.1:n.787+225_787+226del
ENST00000639055.1:n.1598+225_1598+226del
ENST00000639251.1:n.778+225_778+226del
ENST00000639268.1:c.512+225_512+226del
ENST00000639341.1:c.402+225_402+226del
ENST00000639770.1:c.915+225_915+226del	ENSP00000491999.1:n.915+225_915+226del
ENST00000640390.1:n.807+225_807+226del
ENST00000640469.1:c.241+225_241+226del	ENSP00000491875.1:n.241+225_241+226del
ENST00000640560.1:n.653+225_653+226del
ENST00000640893.1:c.*275+225_*275+226del	ENSP00000492677.1:n.*275+225_*275+226del
ENST00000262493.10:c.877+225_877+226del	ENSP00000262493.6:n.877+225_877+226del
ENST00000564727.1:c.97+225_97+226del	ENSP00000454971.1:n.97+225_97+226del
ENST00000568375.1:n.116-3104_116-3103del
NM_020988.2:c.877+225_877+226del	NP_066268.1:n.877+225_877+226del
XM_011523003.1:c.751+225_751+226del	XP_011521305.1:n.751+225_751+226del
XM_011523003.3:c.751+225_751+226del	XP_011521305.1:n.751+225_751+226del
NM_020988.3:c.877+225_877+226del MANE Select	NP_066268.1:n.877+225_877+226del