Canonical Allele Identifier: CA636607537

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs1224959871
• gnomAD v2: 20-57415960-AACTGGGG-A
• gnomAD v4: 20-58840905-AACTGGGG-A
• MyVariant Identifiers: chr20:g.57415961_57415967del (hg19) ; chr20:g.58840906_58840912del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840907_58840913del , CM000682.2:g.58840907_58840913del	GRCh38
NC_000020.10:g.57415962_57415968del , CM000682.1:g.57415962_57415968del	GRCh37
NC_000020.9:g.56849357_56849363del	NCBI36
NG_016194.1:g.6168_6174del
NG_021433.1:g.14992_14998del
NG_016194.2:g.6168_6174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.*42+21_*42+27del (GNAS)	ENSP00000416234.2:n.*42+21_*42+27del
ENST00000453292.7:c.780+21_780+27del (GNAS)	ENSP00000392000.2:n.780+21_780+27del
ENST00000306090.12:c.43+21_43+27del (GNAS)	ENSP00000304472.12:n.43+21_43+27del
ENST00000419558.6:c.*42+21_*42+27del (GNAS)	ENSP00000416234.2:n.*42+21_*42+27del
ENST00000453292.6:c.*42+21_*42+27del (GNAS)	ENSP00000392000.2:n.*42+21_*42+27del
ENST00000657090.1:c.-39+967_-39+973del (GNAS)	ENSP00000499380.1:n.-39+967_-39+973del
ENST00000667293.1:c.10+21_10+27del (GNAS)	ENSP00000499293.1:n.10+21_10+27del
ENST00000313949.11:c.*42+21_*42+27del (GNAS)	ENSP00000323571.7:n.*42+21_*42+27del
ENST00000371075.7:c.*42+21_*42+27del (GNAS) MANE Plus Clinical	ENSP00000360115.3:n.*42+21_*42+27del
ENST00000371098.6:c.*42+21_*42+27del (GNAS)	ENSP00000360139.2:n.*42+21_*42+27del
ENST00000419558.5:c.383+21_383+27del (GNAS)
ENST00000453292.5:c.543+21_543+27del (GNAS)	ENSP00000392000.1:n.543+21_543+27del
NM_016592.2:c.*42+21_*42+27del (GNAS)	NP_057676.1:n.*42+21_*42+27del
NM_016592.3:c.*42+21_*42+27del (GNAS)	NP_057676.1:n.*42+21_*42+27del
NR_002785.2:n.819+1025_819+1031del (GNAS-AS1)
XM_017027815.1:c.43+21_43+27del (GNAS)	XP_016883304.1:n.43+21_43+27del
XM_017027821.1:c.*42+21_*42+27del (GNAS)	XP_016883310.1:n.*42+21_*42+27del
XM_017027822.1:c.*42+21_*42+27del (GNAS)	XP_016883311.1:n.*42+21_*42+27del
XM_024451872.1:c.43+21_43+27del (GNAS)	XP_024307640.1:n.43+21_43+27del
NM_016592.4:c.*42+21_*42+27del (GNAS)	NP_057676.1:n.*42+21_*42+27del
NM_016592.5:c.*42+21_*42+27del (GNAS) MANE Plus Clinical	NP_057676.1:n.*42+21_*42+27del