Canonical Allele Identifier: CA2843744623

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911374del , CM000679.2:g.44911374del	GRCh38
NC_000017.10:g.42988742del , CM000679.1:g.42988742del	GRCh37
NC_000017.9:g.40344268del	NCBI36
NG_008401.1:g.9174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.990del	ENSP00000253408.5:p.Leu331TrpfsTer?
ENST00000435360.8:c.990del	ENSP00000403962.1:p.Leu331TrpfsTer?
ENST00000253408.10:c.990del	ENSP00000253408.5:p.Leu331TrpfsTer?
ENST00000435360.7:c.990del	ENSP00000403962.1:p.Leu331TrpfsTer?
ENST00000585543.6:n.143del
ENST00000586127.6:n.1519del
ENST00000586793.6:c.907-52del	ENSP00000468500.2:n.907-52del
ENST00000587997.6:n.466del
ENST00000588735.3:c.990del MANE Select	ENSP00000466598.2:p.Leu331TrpfsTer?
ENST00000591327.2:n.2144del
ENST00000592320.6:c.619-52del	ENSP00000465320.1:n.619-52del
ENST00000638281.1:c.990del	ENSP00000491088.1:p.Leu331TrpfsTer?
ENST00000638618.1:c.645del	ENSP00000492832.1:p.Leu216TrpfsTer?
ENST00000639277.1:c.990del	ENSP00000492432.1:p.Leu331TrpfsTer?
ENST00000640552.1:n.1004del
ENST00000253408.9:c.990del	ENSP00000253408.4:p.Leu331TrpfsTer?
ENST00000376990.8:c.*389del	ENSP00000366189.4:n.*389del
ENST00000435360.6:c.990del	ENSP00000403962.1:p.Leu331TrpfsTer?
ENST00000585543.5:n.143del
ENST00000586793.5:c.990del	ENSP00000468500.1:p.Leu331TrpfsTer?
ENST00000587997.5:c.466del
ENST00000588640.5:n.370del
ENST00000588735.1:c.83-3257del	ENSP00000466598.1:n.83-3257del
ENST00000592320.5:c.619-52del	ENSP00000465320.1:n.619-52del
NM_001131019.2:c.990del	NP_001124491.1:p.Leu331TrpfsTer?
NM_001242376.1:c.990del	NP_001229305.1:p.Leu331TrpfsTer?
NM_002055.4:c.990del	NP_002046.1:p.Leu331TrpfsTer?
NM_001363846.1:c.990del	NP_001350775.1:p.Leu331TrpfsTer?
XM_024450690.1:c.1194del	XP_024306458.1:p.Leu399TrpfsTer?
XM_024450691.1:c.1194del	XP_024306459.1:p.Leu399TrpfsTer?
XM_024450692.1:c.1194del	XP_024306460.1:p.Leu399TrpfsTer?
XM_024450693.1:c.1194del	XP_024306461.1:p.Leu399TrpfsTer?
NM_002055.5:c.990del MANE Select	NP_002046.1:p.Leu331TrpfsTer?
NM_001131019.3:c.990del	NP_001124491.1:p.Leu331TrpfsTer?
NM_001242376.2:c.990del	NP_001229305.1:p.Leu331TrpfsTer?
NM_001242376.3:c.990del	NP_001229305.1:p.Leu331TrpfsTer?
NM_001363846.2:c.990del	NP_001350775.1:p.Leu331TrpfsTer?