Canonical Allele Identifier: CA2653513884

Gene: GNAS GNAS-AS1

Linked Data

• gnomAD v4: 20-58840467-TCCGAGACCGACTTCGAGACCGAGCCTGAGACCGCCCCCACCACTGAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840478_58840525del , CM000682.2:g.58840478_58840525del	GRCh38
NC_000020.10:g.57415533_57415580del , CM000682.1:g.57415533_57415580del	GRCh37
NC_000020.9:g.56848928_56848975del	NCBI36
NG_016194.1:g.5739_5786del
NG_021433.1:g.15389_15436del
NG_016194.2:g.5739_5786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.372_419del (GNAS)	ENSP00000416234.2:p.Asp124_Thr139del
ENST00000453292.7:c.372_419del (GNAS)	ENSP00000392000.2:p.Asp124_Thr139del
ENST00000419558.6:c.372_419del (GNAS)	ENSP00000416234.2:p.Asp124_Thr139del
ENST00000453292.6:c.372_419del (GNAS)	ENSP00000392000.2:p.Asp124_Thr139del
ENST00000657090.1:c.-39+538_-39+585del (GNAS)	ENSP00000499380.1:n.-39+538_-39+585del
ENST00000667293.1:c.-27-372_-27-325del (GNAS)	ENSP00000499293.1:n.-27-372_-27-325del
ENST00000313949.11:c.372_419del (GNAS)	ENSP00000323571.7:p.Asp124_Thr139del
ENST00000371075.7:c.372_419del (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Asp124_Thr139del
ENST00000371098.6:c.372_419del (GNAS)	ENSP00000360139.2:p.Asp124_Thr139del
ENST00000453292.5:c.135_182del (GNAS)	ENSP00000392000.1:p.Asp45_Thr60del
NM_016592.2:c.372_419del (GNAS)	NP_057676.1:p.Asp124_Thr139del
NM_016592.3:c.372_419del (GNAS)	NP_057676.1:p.Asp124_Thr139del
NR_002785.2:n.819+1422_819+1469del (GNAS-AS1)
XM_017027821.1:c.372_419del (GNAS)	XP_016883310.1:p.Asp124_Thr139del
XM_017027822.1:c.372_419del (GNAS)	XP_016883311.1:p.Asp124_Thr139del
XM_024451872.1:c.-366_-319del (GNAS)	XP_024307640.1:n.-366_-319del
NM_016592.4:c.372_419del (GNAS)	NP_057676.1:p.Asp124_Thr139del
NM_016592.5:c.372_419del (GNAS) MANE Plus Clinical	NP_057676.1:p.Asp124_Thr139del