Canonical Allele Identifier: CA281428482

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1329613
• ClinVar RCV Id: RCV001799921
• dbSNP Id: rs201740905
• gnomAD v2: 16-56371043-TTGG-T
• gnomAD v3: 16-56337131-TTGG-T
• gnomAD v4: 16-56337131-TTGG-T
• MyVariant Identifiers: chr16:g.56371044_56371046del (hg19) ; chr16:g.56337132_56337134del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56337135_56337137del , CM000678.2:g.56337135_56337137del	GRCh38
NC_000016.9:g.56371047_56371049del , CM000678.1:g.56371047_56371049del	GRCh37
NC_000016.8:g.54928548_54928550del	NCBI36
NG_042800.1:g.150797_150799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.723+275_723+277del	ENSP00000262494.7:n.723+275_723+277del
ENST00000262493.12:c.723+275_723+277del MANE Select	ENSP00000262493.6:n.723+275_723+277del
ENST00000262494.12:c.723+275_723+277del	ENSP00000262494.7:n.723+275_723+277del
ENST00000562316.6:c.390+275_390+277del	ENSP00000457238.2:n.390+275_390+277del
ENST00000564727.2:c.27+275_27+277del	ENSP00000454971.2:n.27+275_27+277del
ENST00000568375.2:c.115+275_115+277del
ENST00000638185.1:n.938+275_938+277del
ENST00000638210.1:n.1023+275_1023+277del
ENST00000638705.1:c.723+275_723+277del	ENSP00000491223.1:n.723+275_723+277del
ENST00000638836.1:n.633+275_633+277del
ENST00000639055.1:n.1444+275_1444+277del
ENST00000639251.1:n.624+275_624+277del
ENST00000639268.1:c.358+275_358+277del
ENST00000639341.1:c.248+275_248+277del
ENST00000639770.1:c.761+275_761+277del	ENSP00000491999.1:n.761+275_761+277del
ENST00000640390.1:n.653+275_653+277del
ENST00000640469.1:c.87+275_87+277del	ENSP00000491875.1:n.87+275_87+277del
ENST00000640560.1:n.499+275_499+277del
ENST00000640893.1:c.*121+275_*121+277del	ENSP00000492677.1:n.*121+275_*121+277del
ENST00000262493.10:c.723+275_723+277del	ENSP00000262493.6:n.723+275_723+277del
ENST00000262494.11:c.723+275_723+277del	ENSP00000262494.7:n.723+275_723+277del
ENST00000568375.1:n.115+275_115+277del
NM_020988.2:c.723+275_723+277del	NP_066268.1:n.723+275_723+277del
NM_138736.2:c.723+275_723+277del	NP_620073.2:n.723+275_723+277del
XM_011523003.1:c.597+275_597+277del	XP_011521305.1:n.597+275_597+277del
XM_011523003.3:c.597+275_597+277del	XP_011521305.1:n.597+275_597+277del
NM_020988.3:c.723+275_723+277del MANE Select	NP_066268.1:n.723+275_723+277del
NM_138736.3:c.723+275_723+277del	NP_620073.2:n.723+275_723+277del