Canonical Allele Identifier: CA984042556

Gene: GFAP

Linked Data

• dbSNP Id: rs2051766774
• gnomAD v3: 17-44911526-C-CGGCCCCA
• gnomAD v4: 17-44911526-C-CGGCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911533_44911539dup , CM000679.2:g.44911533_44911539dup	GRCh38
NC_000017.10:g.42988901_42988907dup , CM000679.1:g.42988901_42988907dup	GRCh37
NC_000017.9:g.40344427_40344433dup	NCBI36
NG_008401.1:g.9014_9020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.907-77_907-71dup	ENSP00000253408.5:n.907-77_907-71dup
ENST00000435360.8:c.907-77_907-71dup	ENSP00000403962.1:n.907-77_907-71dup
ENST00000253408.10:c.907-77_907-71dup	ENSP00000253408.5:n.907-77_907-71dup
ENST00000435360.7:c.907-77_907-71dup	ENSP00000403962.1:n.907-77_907-71dup
ENST00000586127.6:n.1436-77_1436-71dup
ENST00000586793.6:c.906+139_906+145dup	ENSP00000468500.2:n.906+139_906+145dup
ENST00000587997.6:n.383-77_383-71dup
ENST00000588735.3:c.907-77_907-71dup MANE Select	ENSP00000466598.2:n.907-77_907-71dup
ENST00000591327.2:n.2061-77_2061-71dup
ENST00000592320.6:c.619-212_619-206dup	ENSP00000465320.1:n.619-212_619-206dup
ENST00000638281.1:c.907-77_907-71dup	ENSP00000491088.1:n.907-77_907-71dup
ENST00000638618.1:c.562-77_562-71dup	ENSP00000492832.1:n.562-77_562-71dup
ENST00000639277.1:c.907-77_907-71dup	ENSP00000492432.1:n.907-77_907-71dup
ENST00000640552.1:n.921-77_921-71dup
ENST00000253408.9:c.907-77_907-71dup	ENSP00000253408.4:n.907-77_907-71dup
ENST00000376990.8:c.*306-77_*306-71dup	ENSP00000366189.4:n.*306-77_*306-71dup
ENST00000435360.6:c.907-77_907-71dup	ENSP00000403962.1:n.907-77_907-71dup
ENST00000586793.5:c.907-77_907-71dup	ENSP00000468500.1:n.907-77_907-71dup
ENST00000587997.5:c.383-77_383-71dup
ENST00000588640.5:n.287-77_287-71dup
ENST00000588735.1:c.83-3417_83-3411dup	ENSP00000466598.1:n.83-3417_83-3411dup
ENST00000591719.5:n.541-77_541-71dup
ENST00000592320.5:c.619-212_619-206dup	ENSP00000465320.1:n.619-212_619-206dup
NM_001131019.2:c.907-77_907-71dup	NP_001124491.1:n.907-77_907-71dup
NM_001242376.1:c.907-77_907-71dup	NP_001229305.1:n.907-77_907-71dup
NM_002055.4:c.907-77_907-71dup	NP_002046.1:n.907-77_907-71dup
NM_001363846.1:c.907-77_907-71dup	NP_001350775.1:n.907-77_907-71dup
XM_024450690.1:c.1111-77_1111-71dup	XP_024306458.1:n.1111-77_1111-71dup
XM_024450691.1:c.1111-77_1111-71dup	XP_024306459.1:n.1111-77_1111-71dup
XM_024450692.1:c.1111-77_1111-71dup	XP_024306460.1:n.1111-77_1111-71dup
XM_024450693.1:c.1111-77_1111-71dup	XP_024306461.1:n.1111-77_1111-71dup
NM_002055.5:c.907-77_907-71dup MANE Select	NP_002046.1:n.907-77_907-71dup
NM_001131019.3:c.907-77_907-71dup	NP_001124491.1:n.907-77_907-71dup
NM_001242376.2:c.907-77_907-71dup	NP_001229305.1:n.907-77_907-71dup
NM_001242376.3:c.907-77_907-71dup	NP_001229305.1:n.907-77_907-71dup
NM_001363846.2:c.907-77_907-71dup	NP_001350775.1:n.907-77_907-71dup