Canonical Allele Identifier: CA2653513945
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840943_58840980del , CM000682.2:g.58840943_58840980del GRCh38
NC_000020.10:g.57415998_57416035del , CM000682.1:g.57415998_57416035del GRCh37
NC_000020.9:g.56849393_56849430del NCBI36
NG_016194.1:g.6204_6241del
NG_021433.1:g.14924_14961del
NG_016194.2:g.6204_6241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.*42+57_*42+94del (GNAS) ENSP00000416234.2:n.*42+57_*42+94del
ENST00000453292.7:c.780+57_780+94del (GNAS) ENSP00000392000.2:n.780+57_780+94del
ENST00000306090.12:c.43+57_43+94del (GNAS) ENSP00000304472.12:n.43+57_43+94del
ENST00000419558.6:c.*42+57_*42+94del (GNAS) ENSP00000416234.2:n.*42+57_*42+94del
ENST00000453292.6:c.*42+57_*42+94del (GNAS) ENSP00000392000.2:n.*42+57_*42+94del
ENST00000657090.1:c.-39+1003_-39+1040del (GNAS) ENSP00000499380.1:n.-39+1003_-39+1040del
ENST00000667293.1:c.10+57_10+94del (GNAS) ENSP00000499293.1:n.10+57_10+94del
ENST00000313949.11:c.*42+57_*42+94del (GNAS) ENSP00000323571.7:n.*42+57_*42+94del
ENST00000371075.7:c.*42+57_*42+94del (GNAS) MANE Plus Clinical ENSP00000360115.3:n.*42+57_*42+94del
ENST00000371098.6:c.*42+57_*42+94del (GNAS) ENSP00000360139.2:n.*42+57_*42+94del
ENST00000419558.5:c.383+57_383+94del (GNAS)
ENST00000453292.5:c.543+57_543+94del (GNAS) ENSP00000392000.1:n.543+57_543+94del
NM_016592.2:c.*42+57_*42+94del (GNAS) NP_057676.1:n.*42+57_*42+94del
NM_016592.3:c.*42+57_*42+94del (GNAS) NP_057676.1:n.*42+57_*42+94del
NR_002785.2:n.819+957_819+994del (GNAS-AS1)
XM_017027815.1:c.43+57_43+94del (GNAS) XP_016883304.1:n.43+57_43+94del
XM_017027821.1:c.*42+57_*42+94del (GNAS) XP_016883310.1:n.*42+57_*42+94del
XM_017027822.1:c.*42+57_*42+94del (GNAS) XP_016883311.1:n.*42+57_*42+94del
XM_024451872.1:c.43+57_43+94del (GNAS) XP_024307640.1:n.43+57_43+94del
NM_016592.4:c.*42+57_*42+94del (GNAS) NP_057676.1:n.*42+57_*42+94del
NM_016592.5:c.*42+57_*42+94del (GNAS) MANE Plus Clinical NP_057676.1:n.*42+57_*42+94del