Canonical Allele Identifier: CA2653513981

Gene: GNAS GNAS-AS1

Linked Data

• gnomAD v4: 20-58840968-AGGTCAGGGGCGAGTGGGAAGAGAGGAGGCTCAGCTGGTCAGCCTGGGATCGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840977_58841029del , CM000682.2:g.58840977_58841029del	GRCh38
NC_000020.10:g.57416032_57416084del , CM000682.1:g.57416032_57416084del	GRCh37
NC_000020.9:g.56849427_56849479del	NCBI36
NG_016194.1:g.6238_6290del
NG_021433.1:g.14883_14935del
NG_016194.2:g.6238_6290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.*42+91_*42+143del (GNAS)	ENSP00000416234.2:n.*42+91_*42+143del
ENST00000453292.7:c.780+91_780+143del (GNAS)	ENSP00000392000.2:n.780+91_780+143del
ENST00000306090.12:c.43+91_43+143del (GNAS)	ENSP00000304472.12:n.43+91_43+143del
ENST00000419558.6:c.*42+91_*42+143del (GNAS)	ENSP00000416234.2:n.*42+91_*42+143del
ENST00000453292.6:c.*42+91_*42+143del (GNAS)	ENSP00000392000.2:n.*42+91_*42+143del
ENST00000657090.1:c.-39+1037_-39+1089del (GNAS)	ENSP00000499380.1:n.-39+1037_-39+1089del
ENST00000667293.1:c.10+91_10+143del (GNAS)	ENSP00000499293.1:n.10+91_10+143del
ENST00000313949.11:c.*42+91_*42+143del (GNAS)	ENSP00000323571.7:n.*42+91_*42+143del
ENST00000371075.7:c.*42+91_*42+143del (GNAS) MANE Plus Clinical	ENSP00000360115.3:n.*42+91_*42+143del
ENST00000371098.6:c.*42+91_*42+143del (GNAS)	ENSP00000360139.2:n.*42+91_*42+143del
ENST00000419558.5:c.383+91_383+143del (GNAS)
ENST00000453292.5:c.543+91_543+143del (GNAS)	ENSP00000392000.1:n.543+91_543+143del
NM_016592.2:c.*42+91_*42+143del (GNAS)	NP_057676.1:n.*42+91_*42+143del
NM_016592.3:c.*42+91_*42+143del (GNAS)	NP_057676.1:n.*42+91_*42+143del
NR_002785.2:n.819+916_819+968del (GNAS-AS1)
XM_017027815.1:c.43+91_43+143del (GNAS)	XP_016883304.1:n.43+91_43+143del
XM_017027821.1:c.*42+91_*42+143del (GNAS)	XP_016883310.1:n.*42+91_*42+143del
XM_017027822.1:c.*42+91_*42+143del (GNAS)	XP_016883311.1:n.*42+91_*42+143del
XM_024451872.1:c.43+91_43+143del (GNAS)	XP_024307640.1:n.43+91_43+143del
NM_016592.4:c.*42+91_*42+143del (GNAS)	NP_057676.1:n.*42+91_*42+143del
NM_016592.5:c.*42+91_*42+143del (GNAS) MANE Plus Clinical	NP_057676.1:n.*42+91_*42+143del