Canonical Allele Identifier: CA891843557

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 569271
• ClinVar RCV Id: RCV000689860
• dbSNP Id: rs1567496374
• MyVariant Identifiers: chr16:g.56385343_56385345del (hg19) ; chr16:g.56351431_56351433del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351431_56351433del , CM000678.2:g.56351431_56351433del	GRCh38
NC_000016.9:g.56385343_56385345del , CM000678.1:g.56385343_56385345del	GRCh37
NC_000016.8:g.54942844_54942846del	NCBI36
NG_042800.1:g.165093_165095del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.771_773del MANE Select	ENSP00000262493.6:p.Asn257del
ENST00000562316.6:c.438_440del	ENSP00000457238.2:p.Asn146del
ENST00000564727.2:c.75_77del	ENSP00000454971.2:p.Asn25del
ENST00000568375.2:c.116-3435_116-3433del
ENST00000638185.1:n.986_988del
ENST00000638210.1:n.1071_1073del
ENST00000638705.1:c.771_773del	ENSP00000491223.1:p.Asn257del
ENST00000638836.1:n.681_683del
ENST00000639055.1:n.1492_1494del
ENST00000639251.1:n.672_674del
ENST00000639268.1:c.406_408del
ENST00000639341.1:c.296_298del
ENST00000639770.1:c.809_811del	ENSP00000491999.1:n.809_811del
ENST00000640390.1:n.701_703del
ENST00000640469.1:c.135_137del	ENSP00000491875.1:p.Asn45del
ENST00000640560.1:n.547_549del
ENST00000640893.1:c.*169_*171del	ENSP00000492677.1:n.*169_*171del
ENST00000262493.10:c.771_773del	ENSP00000262493.6:p.Asn257del
ENST00000568375.1:n.116-3435_116-3433del
NM_020988.2:c.771_773del	NP_066268.1:p.Asn257del
XM_011523003.1:c.645_647del	XP_011521305.1:p.Asn215del
XM_011523003.3:c.645_647del	XP_011521305.1:p.Asn215del
NM_020988.3:c.771_773del MANE Select	NP_066268.1:p.Asn257del