Canonical Allele Identifier: CA2840515073

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913314dup , CM000679.2:g.44913314dup	GRCh38
NC_000017.10:g.42990682dup , CM000679.1:g.42990682dup	GRCh37
NC_000017.9:g.40346208dup	NCBI36
NG_008401.1:g.7234dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.736dup	ENSP00000253408.5:p.Ala246GlyfsTer7
ENST00000435360.8:c.736dup	ENSP00000403962.1:p.Ala246GlyfsTer7
ENST00000253408.10:c.736dup	ENSP00000253408.5:p.Ala246GlyfsTer7
ENST00000435360.7:c.736dup	ENSP00000403962.1:p.Ala246GlyfsTer7
ENST00000586127.6:n.1265dup
ENST00000586793.6:c.736dup	ENSP00000468500.2:p.Ala246GlyfsTer7
ENST00000587997.6:n.212dup
ENST00000588735.3:c.736dup MANE Select	ENSP00000466598.2:p.Ala246GlyfsTer7
ENST00000591327.2:n.1890dup
ENST00000592320.6:c.618+415dup	ENSP00000465320.1:n.618+415dup
ENST00000638281.1:c.736dup	ENSP00000491088.1:p.Ala246GlyfsTer7
ENST00000638618.1:c.391dup	ENSP00000492832.1:p.Ala131GlyfsTer7
ENST00000639277.1:c.736dup	ENSP00000492432.1:p.Ala246GlyfsTer7
ENST00000640552.1:n.750dup
ENST00000253408.9:c.736dup	ENSP00000253408.4:p.Ala246GlyfsTer7
ENST00000376990.8:c.*135dup	ENSP00000366189.4:n.*135dup
ENST00000435360.6:c.736dup	ENSP00000403962.1:p.Ala246GlyfsTer7
ENST00000586793.5:c.736dup	ENSP00000468500.1:p.Ala246GlyfsTer7
ENST00000587997.5:c.212dup
ENST00000588316.1:c.640dup	ENSP00000465629.1:p.Ala214GlyfsTer7
ENST00000588735.1:c.82+2092dup	ENSP00000466598.1:n.82+2092dup
ENST00000588957.5:c.4dup	ENSP00000465565.1:p.Ala2GlyfsTer7
ENST00000590922.1:n.386dup
ENST00000592320.5:c.618+415dup	ENSP00000465320.1:n.618+415dup
NM_001131019.2:c.736dup	NP_001124491.1:p.Ala246GlyfsTer7
NM_001242376.1:c.736dup	NP_001229305.1:p.Ala246GlyfsTer7
NM_002055.4:c.736dup	NP_002046.1:p.Ala246GlyfsTer7
NM_001363846.1:c.736dup	NP_001350775.1:p.Ala246GlyfsTer7
XM_024450690.1:c.940dup	XP_024306458.1:p.Ala314GlyfsTer7
XM_024450691.1:c.940dup	XP_024306459.1:p.Ala314GlyfsTer7
XM_024450692.1:c.940dup	XP_024306460.1:p.Ala314GlyfsTer7
XM_024450693.1:c.940dup	XP_024306461.1:p.Ala314GlyfsTer7
NM_002055.5:c.736dup MANE Select	NP_002046.1:p.Ala246GlyfsTer7
NM_001131019.3:c.736dup	NP_001124491.1:p.Ala246GlyfsTer7
NM_001242376.2:c.736dup	NP_001229305.1:p.Ala246GlyfsTer7
NM_001242376.3:c.736dup	NP_001229305.1:p.Ala246GlyfsTer7
NM_001363846.2:c.736dup	NP_001350775.1:p.Ala246GlyfsTer7