Canonical Allele Identifier: CA2638273125

Gene: GFAP

Linked Data

• gnomAD v4: 17-44911382-C-CGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911388_44911442dup , CM000679.2:g.44911388_44911442dup	GRCh38
NC_000017.10:g.42988756_42988810dup , CM000679.1:g.42988756_42988810dup	GRCh37
NC_000017.9:g.40344282_40344336dup	NCBI36
NG_008401.1:g.9110_9164dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.926_980dup	ENSP00000253408.5:p.Leu328AspfsTer?
ENST00000435360.8:c.926_980dup	ENSP00000403962.1:p.Leu328AspfsTer?
ENST00000253408.10:c.926_980dup	ENSP00000253408.5:p.Leu328AspfsTer?
ENST00000435360.7:c.926_980dup	ENSP00000403962.1:p.Leu328AspfsTer?
ENST00000585543.6:n.79_133dup
ENST00000586127.6:n.1455_1509dup
ENST00000586793.6:c.907-116_907-62dup	ENSP00000468500.2:n.907-116_907-62dup
ENST00000587997.6:n.402_456dup
ENST00000588735.3:c.926_980dup MANE Select	ENSP00000466598.2:p.Leu328AspfsTer?
ENST00000591327.2:n.2080_2134dup
ENST00000592320.6:c.619-116_619-62dup	ENSP00000465320.1:n.619-116_619-62dup
ENST00000638281.1:c.926_980dup	ENSP00000491088.1:p.Leu328AspfsTer?
ENST00000638618.1:c.581_635dup	ENSP00000492832.1:p.Leu213AspfsTer?
ENST00000639277.1:c.926_980dup	ENSP00000492432.1:p.Leu328AspfsTer?
ENST00000640552.1:n.940_994dup
ENST00000253408.9:c.926_980dup	ENSP00000253408.4:p.Leu328AspfsTer?
ENST00000376990.8:c.*325_*379dup	ENSP00000366189.4:n.*325_*379dup
ENST00000435360.6:c.926_980dup	ENSP00000403962.1:p.Leu328AspfsTer?
ENST00000585543.5:n.79_133dup
ENST00000586793.5:c.926_980dup	ENSP00000468500.1:p.Leu328AspfsTer?
ENST00000587997.5:c.402_456dup
ENST00000588640.5:n.306_360dup
ENST00000588735.1:c.83-3321_83-3267dup	ENSP00000466598.1:n.83-3321_83-3267dup
ENST00000592320.5:c.619-116_619-62dup	ENSP00000465320.1:n.619-116_619-62dup
NM_001131019.2:c.926_980dup	NP_001124491.1:p.Leu328AspfsTer?
NM_001242376.1:c.926_980dup	NP_001229305.1:p.Leu328AspfsTer?
NM_002055.4:c.926_980dup	NP_002046.1:p.Leu328AspfsTer?
NM_001363846.1:c.926_980dup	NP_001350775.1:p.Leu328AspfsTer?
XM_024450690.1:c.1130_1184dup	XP_024306458.1:p.Leu396AspfsTer?
XM_024450691.1:c.1130_1184dup	XP_024306459.1:p.Leu396AspfsTer?
XM_024450692.1:c.1130_1184dup	XP_024306460.1:p.Leu396AspfsTer?
XM_024450693.1:c.1130_1184dup	XP_024306461.1:p.Leu396AspfsTer?
NM_002055.5:c.926_980dup MANE Select	NP_002046.1:p.Leu328AspfsTer?
NM_001131019.3:c.926_980dup	NP_001124491.1:p.Leu328AspfsTer?
NM_001242376.2:c.926_980dup	NP_001229305.1:p.Leu328AspfsTer?
NM_001242376.3:c.926_980dup	NP_001229305.1:p.Leu328AspfsTer?
NM_001363846.2:c.926_980dup	NP_001350775.1:p.Leu328AspfsTer?