Canonical Allele Identifier: CA2653513885

Gene: GNAS GNAS-AS1

Linked Data

• gnomAD v4: 20-58840531-AAGACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840533_58840537del , CM000682.2:g.58840533_58840537del	GRCh38
NC_000020.10:g.57415588_57415592del , CM000682.1:g.57415588_57415592del	GRCh37
NC_000020.9:g.56848983_56848987del	NCBI36
NG_016194.1:g.5794_5798del
NG_021433.1:g.15368_15372del
NG_016194.2:g.5794_5798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.427_431del (GNAS)	ENSP00000416234.2:p.Asp143SerfsTer?
ENST00000453292.7:c.427_431del (GNAS)	ENSP00000392000.2:p.Asp143SerfsTer?
ENST00000419558.6:c.427_431del (GNAS)	ENSP00000416234.2:p.Asp143SerfsTer?
ENST00000453292.6:c.427_431del (GNAS)	ENSP00000392000.2:p.Asp143SerfsTer?
ENST00000657090.1:c.-39+593_-39+597del (GNAS)	ENSP00000499380.1:n.-39+593_-39+597del
ENST00000667293.1:c.-27-317_-27-313del (GNAS)	ENSP00000499293.1:n.-27-317_-27-313del
ENST00000313949.11:c.427_431del (GNAS)	ENSP00000323571.7:p.Asp143SerfsTer?
ENST00000371075.7:c.427_431del (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Asp143SerfsTer?
ENST00000371098.6:c.427_431del (GNAS)	ENSP00000360139.2:p.Asp143SerfsTer?
ENST00000419558.5:c.30_34del (GNAS)
ENST00000453292.5:c.190_194del (GNAS)	ENSP00000392000.1:p.Asp64SerfsTer?
NM_016592.2:c.427_431del (GNAS)	NP_057676.1:p.Asp143SerfsTer?
NM_016592.3:c.427_431del (GNAS)	NP_057676.1:p.Asp143SerfsTer?
NR_002785.2:n.819+1401_819+1405del (GNAS-AS1)
XM_017027821.1:c.427_431del (GNAS)	XP_016883310.1:p.Asp143SerfsTer?
XM_017027822.1:c.427_431del (GNAS)	XP_016883311.1:p.Asp143SerfsTer?
XM_024451872.1:c.-311_-307del (GNAS)	XP_024307640.1:n.-311_-307del
NM_016592.4:c.427_431del (GNAS)	NP_057676.1:p.Asp143SerfsTer?
NM_016592.5:c.427_431del (GNAS) MANE Plus Clinical	NP_057676.1:p.Asp143SerfsTer?