Canonical Allele Identifier: CA721991961

Gene: GNAO1

Linked Data

• dbSNP Id: rs1359910633
• gnomAD v3: 16-56351290-CCT-C
• gnomAD v4: 16-56351290-CCT-C
• MyVariant Identifiers: chr16:g.56385203_56385204del (hg19) ; chr16:g.56351291_56351292del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351295_56351296del , CM000678.2:g.56351295_56351296del	GRCh38
NC_000016.9:g.56385207_56385208del , CM000678.1:g.56385207_56385208del	GRCh37
NC_000016.8:g.54942708_54942709del	NCBI36
NG_042800.1:g.164957_164958del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.724-89_724-88del MANE Select	ENSP00000262493.6:n.724-89_724-88del
ENST00000562316.6:c.391-89_391-88del	ENSP00000457238.2:n.391-89_391-88del
ENST00000564727.2:c.28-89_28-88del	ENSP00000454971.2:n.28-89_28-88del
ENST00000568375.2:c.116-3571_116-3570del
ENST00000638185.1:n.939-89_939-88del
ENST00000638210.1:n.1024-89_1024-88del
ENST00000638705.1:c.724-89_724-88del	ENSP00000491223.1:n.724-89_724-88del
ENST00000638836.1:n.634-89_634-88del
ENST00000639055.1:n.1445-89_1445-88del
ENST00000639251.1:n.625-89_625-88del
ENST00000639268.1:c.359-89_359-88del
ENST00000639341.1:c.249-89_249-88del
ENST00000639770.1:c.762-89_762-88del	ENSP00000491999.1:n.762-89_762-88del
ENST00000640390.1:n.654-89_654-88del
ENST00000640469.1:c.88-89_88-88del	ENSP00000491875.1:n.88-89_88-88del
ENST00000640560.1:n.500-89_500-88del
ENST00000640893.1:c.*122-89_*122-88del	ENSP00000492677.1:n.*122-89_*122-88del
ENST00000262493.10:c.724-89_724-88del	ENSP00000262493.6:n.724-89_724-88del
ENST00000568375.1:n.116-3571_116-3570del
NM_020988.2:c.724-89_724-88del	NP_066268.1:n.724-89_724-88del
XM_011523003.1:c.598-89_598-88del	XP_011521305.1:n.598-89_598-88del
XM_011523003.3:c.598-89_598-88del	XP_011521305.1:n.598-89_598-88del
NM_020988.3:c.724-89_724-88del MANE Select	NP_066268.1:n.724-89_724-88del