Canonical Allele Identifier: CA977621261

Gene: GNAO1

Linked Data

• dbSNP Id: rs2037918869
• gnomAD v3: 16-56351314-CCTT-C
• gnomAD v4: 16-56351314-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351317_56351319del , CM000678.2:g.56351317_56351319del	GRCh38
NC_000016.9:g.56385229_56385231del , CM000678.1:g.56385229_56385231del	GRCh37
NC_000016.8:g.54942730_54942732del	NCBI36
NG_042800.1:g.164979_164981del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.724-67_724-65del MANE Select	ENSP00000262493.6:n.724-67_724-65del
ENST00000562316.6:c.391-67_391-65del	ENSP00000457238.2:n.391-67_391-65del
ENST00000564727.2:c.28-67_28-65del	ENSP00000454971.2:n.28-67_28-65del
ENST00000568375.2:c.116-3549_116-3547del
ENST00000638185.1:n.939-67_939-65del
ENST00000638210.1:n.1024-67_1024-65del
ENST00000638705.1:c.724-67_724-65del	ENSP00000491223.1:n.724-67_724-65del
ENST00000638836.1:n.634-67_634-65del
ENST00000639055.1:n.1445-67_1445-65del
ENST00000639251.1:n.625-67_625-65del
ENST00000639268.1:c.359-67_359-65del
ENST00000639341.1:c.249-67_249-65del
ENST00000639770.1:c.762-67_762-65del	ENSP00000491999.1:n.762-67_762-65del
ENST00000640390.1:n.654-67_654-65del
ENST00000640469.1:c.88-67_88-65del	ENSP00000491875.1:n.88-67_88-65del
ENST00000640560.1:n.500-67_500-65del
ENST00000640893.1:c.*122-67_*122-65del	ENSP00000492677.1:n.*122-67_*122-65del
ENST00000262493.10:c.724-67_724-65del	ENSP00000262493.6:n.724-67_724-65del
ENST00000568375.1:n.116-3549_116-3547del
NM_020988.2:c.724-67_724-65del	NP_066268.1:n.724-67_724-65del
XM_011523003.1:c.598-67_598-65del	XP_011521305.1:n.598-67_598-65del
XM_011523003.3:c.598-67_598-65del	XP_011521305.1:n.598-67_598-65del
NM_020988.3:c.724-67_724-65del MANE Select	NP_066268.1:n.724-67_724-65del