Canonical Allele Identifier: CA2580093918

Gene: GFAP

Linked Data

• ClinVar Variation Id: 2032304
• ClinVar RCV Id: RCV002899057

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913340_44913342del , CM000679.2:g.44913340_44913342del	GRCh38
NC_000017.10:g.42990708_42990710del , CM000679.1:g.42990708_42990710del	GRCh37
NC_000017.9:g.40346234_40346236del	NCBI36
NG_008401.1:g.7206_7208del

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.708_710del	ENSP00000253408.5:p.Glu237del
ENST00000435360.8:c.708_710del	ENSP00000403962.1:p.Glu237del
ENST00000253408.10:c.708_710del	ENSP00000253408.5:p.Glu237del
ENST00000435360.7:c.708_710del	ENSP00000403962.1:p.Glu237del
ENST00000586127.6:n.1237_1239del
ENST00000586793.6:c.708_710del	ENSP00000468500.2:p.Glu237del
ENST00000587997.6:n.184_186del
ENST00000588735.3:c.708_710del MANE Select	ENSP00000466598.2:p.Glu237del
ENST00000591327.2:n.1862_1864del
ENST00000592320.6:c.618+387_618+389del	ENSP00000465320.1:n.618+387_618+389del
ENST00000638281.1:c.708_710del	ENSP00000491088.1:p.Glu237del
ENST00000638618.1:c.363_365del	ENSP00000492832.1:p.Glu122del
ENST00000639277.1:c.708_710del	ENSP00000492432.1:p.Glu237del
ENST00000640552.1:n.722_724del
ENST00000253408.9:c.708_710del	ENSP00000253408.4:p.Glu237del
ENST00000376990.8:c.*107_*109del	ENSP00000366189.4:n.*107_*109del
ENST00000435360.6:c.708_710del	ENSP00000403962.1:p.Glu237del
ENST00000585728.5:c.*352_*354del	ENSP00000465208.1:n.*352_*354del
ENST00000586793.5:c.708_710del	ENSP00000468500.1:p.Glu237del
ENST00000587997.5:c.184_186del
ENST00000588316.1:c.612_614del	ENSP00000465629.1:p.Glu205del
ENST00000588735.1:c.82+2064_82+2066del	ENSP00000466598.1:n.82+2064_82+2066del
ENST00000588957.5:c.-25_-23del	ENSP00000465565.1:n.-25_-23del
ENST00000590922.1:n.358_360del
ENST00000592320.5:c.618+387_618+389del	ENSP00000465320.1:n.618+387_618+389del
NM_001131019.2:c.708_710del	NP_001124491.1:p.Glu237del
NM_001242376.1:c.708_710del	NP_001229305.1:p.Glu237del
NM_002055.4:c.708_710del	NP_002046.1:p.Glu237del
NM_001363846.1:c.708_710del	NP_001350775.1:p.Glu237del
XM_024450690.1:c.912_914del	XP_024306458.1:p.Glu305del
XM_024450691.1:c.912_914del	XP_024306459.1:p.Glu305del
XM_024450692.1:c.912_914del	XP_024306460.1:p.Glu305del
XM_024450693.1:c.912_914del	XP_024306461.1:p.Glu305del
NM_002055.5:c.708_710del MANE Select	NP_002046.1:p.Glu237del
NM_001131019.3:c.708_710del	NP_001124491.1:p.Glu237del
NM_001242376.2:c.708_710del	NP_001229305.1:p.Glu237del
NM_001242376.3:c.708_710del	NP_001229305.1:p.Glu237del
NM_001363846.2:c.708_710del	NP_001350775.1:p.Glu237del