Canonical Allele Identifier: CA2840515040

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911238dup , CM000679.2:g.44911238dup	GRCh38
NC_000017.10:g.42988606dup , CM000679.1:g.42988606dup	GRCh37
NC_000017.9:g.40344132dup	NCBI36
NG_008401.1:g.9310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1126dup	ENSP00000253408.5:p.Arg376ProfsTer?
ENST00000435360.8:c.1126dup	ENSP00000403962.1:p.Arg376ProfsTer?
ENST00000253408.10:c.1126dup	ENSP00000253408.5:p.Arg376ProfsTer?
ENST00000435360.7:c.1126dup	ENSP00000403962.1:p.Arg376ProfsTer?
ENST00000585543.6:n.279dup
ENST00000586125.2:c.61dup	ENSP00000467397.2:p.Arg21ProfsTer?
ENST00000586127.6:n.1655dup
ENST00000586793.6:c.991dup	ENSP00000468500.2:p.Arg331ProfsTer?
ENST00000587997.6:n.602dup
ENST00000588735.3:c.1126dup MANE Select	ENSP00000466598.2:p.Arg376ProfsTer?
ENST00000591327.2:n.2280dup
ENST00000591880.2:c.56dup
ENST00000592320.6:c.703dup	ENSP00000465320.1:p.Arg235ProfsTer?
ENST00000638281.1:c.1126dup	ENSP00000491088.1:p.Arg376ProfsTer?
ENST00000638304.1:c.45dup
ENST00000638488.1:n.67dup
ENST00000638618.1:c.781dup	ENSP00000492832.1:p.Arg261ProfsTer?
ENST00000639042.1:c.63dup
ENST00000639277.1:c.1126dup	ENSP00000492432.1:p.Arg376ProfsTer?
ENST00000639921.1:c.83dup
ENST00000640552.1:n.1140dup
ENST00000253408.9:c.1126dup	ENSP00000253408.4:p.Arg376ProfsTer?
ENST00000435360.6:c.1126dup	ENSP00000403962.1:p.Arg376ProfsTer?
ENST00000585543.5:n.279dup
ENST00000586793.5:c.1126dup	ENSP00000468500.1:p.Arg376ProfsTer?
ENST00000588640.5:n.506dup
ENST00000588735.1:c.83-3121dup	ENSP00000466598.1:n.83-3121dup
ENST00000592320.5:c.703dup	ENSP00000465320.1:p.Arg235ProfsTer?
NM_001131019.2:c.1126dup	NP_001124491.1:p.Arg376ProfsTer?
NM_001242376.1:c.1126dup	NP_001229305.1:p.Arg376ProfsTer?
NM_002055.4:c.1126dup	NP_002046.1:p.Arg376ProfsTer?
NM_001363846.1:c.1126dup	NP_001350775.1:p.Arg376ProfsTer?
XM_024450690.1:c.1330dup	XP_024306458.1:p.Arg444ProfsTer?
XM_024450691.1:c.1330dup	XP_024306459.1:p.Arg444ProfsTer?
XM_024450692.1:c.1330dup	XP_024306460.1:p.Arg444ProfsTer?
XM_024450693.1:c.1330dup	XP_024306461.1:p.Arg444ProfsTer?
NM_002055.5:c.1126dup MANE Select	NP_002046.1:p.Arg376ProfsTer?
NM_001131019.3:c.1126dup	NP_001124491.1:p.Arg376ProfsTer?
NM_001242376.2:c.1126dup	NP_001229305.1:p.Arg376ProfsTer?
NM_001242376.3:c.1126dup	NP_001229305.1:p.Arg376ProfsTer?
NM_001363846.2:c.1126dup	NP_001350775.1:p.Arg376ProfsTer?