Canonical Allele Identifier: CA977614066

Gene: GNAO1

Linked Data

• dbSNP Id: rs2037747392
• gnomAD v3: 16-56337071-AGAGCCTGTGTATGCAAC-A
• gnomAD v4: 16-56337071-AGAGCCTGTGTATGCAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56337072_56337088del , CM000678.2:g.56337072_56337088del	GRCh38
NC_000016.9:g.56370984_56371000del , CM000678.1:g.56370984_56371000del	GRCh37
NC_000016.8:g.54928485_54928501del	NCBI36
NG_042800.1:g.150734_150750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.723+212_723+228del	ENSP00000262494.7:n.723+212_723+228del
ENST00000262493.12:c.723+212_723+228del MANE Select	ENSP00000262493.6:n.723+212_723+228del
ENST00000262494.12:c.723+212_723+228del	ENSP00000262494.7:n.723+212_723+228del
ENST00000562316.6:c.390+212_390+228del	ENSP00000457238.2:n.390+212_390+228del
ENST00000564727.2:c.27+212_27+228del	ENSP00000454971.2:n.27+212_27+228del
ENST00000568375.2:c.115+212_115+228del
ENST00000638185.1:n.938+212_938+228del
ENST00000638210.1:n.1023+212_1023+228del
ENST00000638705.1:c.723+212_723+228del	ENSP00000491223.1:n.723+212_723+228del
ENST00000638836.1:n.633+212_633+228del
ENST00000639055.1:n.1444+212_1444+228del
ENST00000639251.1:n.624+212_624+228del
ENST00000639268.1:c.358+212_358+228del
ENST00000639341.1:c.248+212_248+228del
ENST00000639770.1:c.761+212_761+228del	ENSP00000491999.1:n.761+212_761+228del
ENST00000640390.1:n.653+212_653+228del
ENST00000640469.1:c.87+212_87+228del	ENSP00000491875.1:n.87+212_87+228del
ENST00000640560.1:n.499+212_499+228del
ENST00000640893.1:c.*121+212_*121+228del	ENSP00000492677.1:n.*121+212_*121+228del
ENST00000262493.10:c.723+212_723+228del	ENSP00000262493.6:n.723+212_723+228del
ENST00000262494.11:c.723+212_723+228del	ENSP00000262494.7:n.723+212_723+228del
ENST00000568375.1:n.115+212_115+228del
NM_020988.2:c.723+212_723+228del	NP_066268.1:n.723+212_723+228del
NM_138736.2:c.723+212_723+228del	NP_620073.2:n.723+212_723+228del
XM_011523003.1:c.597+212_597+228del	XP_011521305.1:n.597+212_597+228del
XM_011523003.3:c.597+212_597+228del	XP_011521305.1:n.597+212_597+228del
NM_020988.3:c.723+212_723+228del MANE Select	NP_066268.1:n.723+212_723+228del
NM_138736.3:c.723+212_723+228del	NP_620073.2:n.723+212_723+228del