Canonical Allele Identifier: CA8064007

Gene: GNAO1

Linked Data

• dbSNP Id: rs769937214
• ExAC: 16:56385493 CAG / C
• gnomAD v2: 16-56385493-CAG-C
• gnomAD v3: 16-56351581-CAG-C
• gnomAD v4: 16-56351581-CAG-C
• MyVariant Identifiers: chr16:g.56385494_56385495del (hg19) ; chr16:g.56351582_56351583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351582_56351583del , CM000678.2:g.56351582_56351583del	GRCh38
NC_000016.9:g.56385494_56385495del , CM000678.1:g.56385494_56385495del	GRCh37
NC_000016.8:g.54942995_54942996del	NCBI36
NG_042800.1:g.165244_165245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.877+45_877+46del MANE Select	ENSP00000262493.6:n.877+45_877+46del
ENST00000562316.6:c.544+45_544+46del	ENSP00000457238.2:n.544+45_544+46del
ENST00000564727.2:c.181+45_181+46del	ENSP00000454971.2:n.181+45_181+46del
ENST00000568375.2:c.116-3284_116-3283del
ENST00000638185.1:n.1092+45_1092+46del
ENST00000638210.1:n.1177+45_1177+46del
ENST00000638705.1:c.877+45_877+46del	ENSP00000491223.1:n.877+45_877+46del
ENST00000638836.1:n.787+45_787+46del
ENST00000639055.1:n.1598+45_1598+46del
ENST00000639251.1:n.778+45_778+46del
ENST00000639268.1:c.512+45_512+46del
ENST00000639341.1:c.402+45_402+46del
ENST00000639770.1:c.915+45_915+46del	ENSP00000491999.1:n.915+45_915+46del
ENST00000640390.1:n.807+45_807+46del
ENST00000640469.1:c.241+45_241+46del	ENSP00000491875.1:n.241+45_241+46del
ENST00000640560.1:n.653+45_653+46del
ENST00000640893.1:c.*275+45_*275+46del	ENSP00000492677.1:n.*275+45_*275+46del
ENST00000262493.10:c.877+45_877+46del	ENSP00000262493.6:n.877+45_877+46del
ENST00000564727.1:c.97+45_97+46del	ENSP00000454971.1:n.97+45_97+46del
ENST00000568375.1:n.116-3284_116-3283del
NM_020988.2:c.877+45_877+46del	NP_066268.1:n.877+45_877+46del
XM_011523003.1:c.751+45_751+46del	XP_011521305.1:n.751+45_751+46del
XM_011523003.3:c.751+45_751+46del	XP_011521305.1:n.751+45_751+46del
NM_020988.3:c.877+45_877+46del MANE Select	NP_066268.1:n.877+45_877+46del