Canonical Allele Identifier: CA2372495381
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2085676962

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840511_58840516del , CM000682.2:g.58840511_58840516del GRCh38
NC_000020.10:g.57415566_57415571del , CM000682.1:g.57415566_57415571del GRCh37
NC_000020.9:g.56848961_56848966del NCBI36
NG_016194.1:g.5772_5777del
NG_021433.1:g.15389_15394del
NG_016194.2:g.5772_5777del

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.405_410del (GNAS) ENSP00000416234.2:p.Glu136_Pro137del
ENST00000453292.7:c.405_410del (GNAS) ENSP00000392000.2:p.Glu136_Pro137del
ENST00000419558.6:c.405_410del (GNAS) ENSP00000416234.2:p.Glu136_Pro137del
ENST00000453292.6:c.405_410del (GNAS) ENSP00000392000.2:p.Glu136_Pro137del
ENST00000657090.1:c.-39+571_-39+576del (GNAS) ENSP00000499380.1:n.-39+571_-39+576del
ENST00000667293.1:c.-27-339_-27-334del (GNAS) ENSP00000499293.1:n.-27-339_-27-334del
ENST00000313949.11:c.405_410del (GNAS) ENSP00000323571.7:p.Glu136_Pro137del
ENST00000371075.7:c.405_410del (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Glu136_Pro137del
ENST00000371098.6:c.405_410del (GNAS) ENSP00000360139.2:p.Glu136_Pro137del
ENST00000419558.5:c.8_13del (GNAS)
ENST00000453292.5:c.168_173del (GNAS) ENSP00000392000.1:p.Glu57_Pro58del
NM_016592.2:c.405_410del (GNAS) NP_057676.1:p.Glu136_Pro137del
NM_016592.3:c.405_410del (GNAS) NP_057676.1:p.Glu136_Pro137del
NR_002785.2:n.819+1422_819+1427del (GNAS-AS1)
XM_017027821.1:c.405_410del (GNAS) XP_016883310.1:p.Glu136_Pro137del
XM_017027822.1:c.405_410del (GNAS) XP_016883311.1:p.Glu136_Pro137del
XM_024451872.1:c.-333_-328del (GNAS) XP_024307640.1:n.-333_-328del
NM_016592.4:c.405_410del (GNAS) NP_057676.1:p.Glu136_Pro137del
NM_016592.5:c.405_410del (GNAS) MANE Plus Clinical NP_057676.1:p.Glu136_Pro137del