Canonical Allele Identifier: CA2638277628

Gene: GFAP

Linked Data

• gnomAD v4: 17-44915081-GGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44915084_44915139del , CM000679.2:g.44915084_44915139del	GRCh38
NC_000017.10:g.42992452_42992507del , CM000679.1:g.42992452_42992507del	GRCh37
NC_000017.9:g.40347978_40348033del	NCBI36
NG_008401.1:g.5410_5465del

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.350_405del	ENSP00000253408.5:p.Gln117ProfsTer5
ENST00000435360.8:c.350_405del	ENSP00000403962.1:p.Gln117ProfsTer5
ENST00000253408.10:c.350_405del	ENSP00000253408.5:p.Gln117ProfsTer5
ENST00000435360.7:c.350_405del	ENSP00000403962.1:p.Gln117ProfsTer5
ENST00000586793.6:c.350_405del	ENSP00000468500.2:p.Gln117ProfsTer5
ENST00000588735.3:c.350_405del MANE Select	ENSP00000466598.2:p.Gln117ProfsTer5
ENST00000591327.2:n.363_418del
ENST00000592320.6:c.350_405del	ENSP00000465320.1:p.Gln117ProfsTer5
ENST00000638281.1:c.350_405del	ENSP00000491088.1:p.Gln117ProfsTer5
ENST00000638618.1:c.5_60del	ENSP00000492832.1:p.Gln2ProfsTer5
ENST00000639277.1:c.350_405del	ENSP00000492432.1:p.Gln117ProfsTer5
ENST00000640552.1:n.364_419del
ENST00000253408.9:c.350_405del	ENSP00000253408.4:p.Gln117ProfsTer5
ENST00000376990.8:c.350_405del	ENSP00000366189.4:p.Gln117ProfsTer5
ENST00000435360.6:c.350_405del	ENSP00000403962.1:p.Gln117ProfsTer5
ENST00000585728.5:c.182-2_*49del
ENST00000586793.5:c.350_405del	ENSP00000468500.1:p.Gln117ProfsTer5
ENST00000588037.1:c.350_405del	ENSP00000466163.1:p.Gln117ProfsTer5
ENST00000588316.1:c.350_405del	ENSP00000465629.1:p.Gln117ProfsTer5
ENST00000588735.1:c.82+268_82+323del	ENSP00000466598.1:n.82+268_82+323del
ENST00000588957.5:c.-272+680_-272+735del	ENSP00000465565.1:n.-272+680_-272+735del
ENST00000591327.1:n.364_419del
ENST00000592320.5:c.350_405del	ENSP00000465320.1:p.Gln117ProfsTer5
NM_001131019.2:c.350_405del	NP_001124491.1:p.Gln117ProfsTer5
NM_001242376.1:c.350_405del	NP_001229305.1:p.Gln117ProfsTer5
NM_002055.4:c.350_405del	NP_002046.1:p.Gln117ProfsTer5
NM_001363846.1:c.350_405del	NP_001350775.1:p.Gln117ProfsTer5
XM_024450690.1:c.350_405del	XP_024306458.1:p.Gln117ProfsTer5
XM_024450691.1:c.350_405del	XP_024306459.1:p.Gln117ProfsTer5
XM_024450692.1:c.350_405del	XP_024306460.1:p.Gln117ProfsTer5
XM_024450693.1:c.350_405del	XP_024306461.1:p.Gln117ProfsTer5
NM_002055.5:c.350_405del MANE Select	NP_002046.1:p.Gln117ProfsTer5
NM_001131019.3:c.350_405del	NP_001124491.1:p.Gln117ProfsTer5
NM_001242376.2:c.350_405del	NP_001229305.1:p.Gln117ProfsTer5
NM_001242376.3:c.350_405del	NP_001229305.1:p.Gln117ProfsTer5
NM_001363846.2:c.350_405del	NP_001350775.1:p.Gln117ProfsTer5