Canonical Allele Identifier: CA984043262

Gene: GFAP

Linked Data

• dbSNP Id: rs2051814955
• gnomAD v3: 17-44913280-AC-A
• gnomAD v4: 17-44913280-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913282del , CM000679.2:g.44913282del	GRCh38
NC_000017.10:g.42990650del , CM000679.1:g.42990650del	GRCh37
NC_000017.9:g.40346176del	NCBI36
NG_008401.1:g.7266del

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.768del	ENSP00000253408.5:p.Trp256CysfsTer9
ENST00000435360.8:c.768del	ENSP00000403962.1:p.Trp256CysfsTer9
ENST00000253408.10:c.768del	ENSP00000253408.5:p.Trp256CysfsTer9
ENST00000435360.7:c.768del	ENSP00000403962.1:p.Trp256CysfsTer9
ENST00000586127.6:n.1297del
ENST00000586793.6:c.768del	ENSP00000468500.2:p.Trp256CysfsTer9
ENST00000587997.6:n.244del
ENST00000588735.3:c.768del MANE Select	ENSP00000466598.2:p.Trp256CysfsTer9
ENST00000591327.2:n.1922del
ENST00000592320.6:c.618+447del	ENSP00000465320.1:n.618+447del
ENST00000638281.1:c.768del	ENSP00000491088.1:p.Trp256CysfsTer9
ENST00000638618.1:c.423del	ENSP00000492832.1:p.Trp141CysfsTer9
ENST00000639277.1:c.768del	ENSP00000492432.1:p.Trp256CysfsTer9
ENST00000640552.1:n.782del
ENST00000253408.9:c.768del	ENSP00000253408.4:p.Trp256CysfsTer9
ENST00000376990.8:c.*167del	ENSP00000366189.4:n.*167del
ENST00000435360.6:c.768del	ENSP00000403962.1:p.Trp256CysfsTer9
ENST00000586793.5:c.768del	ENSP00000468500.1:p.Trp256CysfsTer9
ENST00000587997.5:c.244del
ENST00000588316.1:c.672del	ENSP00000465629.1:p.Trp224CysfsTer9
ENST00000588735.1:c.82+2124del	ENSP00000466598.1:n.82+2124del
ENST00000588957.5:c.36del	ENSP00000465565.1:p.Trp12CysfsTer9
ENST00000590922.1:n.418del
ENST00000592320.5:c.618+447del	ENSP00000465320.1:n.618+447del
NM_001131019.2:c.768del	NP_001124491.1:p.Trp256CysfsTer9
NM_001242376.1:c.768del	NP_001229305.1:p.Trp256CysfsTer9
NM_002055.4:c.768del	NP_002046.1:p.Trp256CysfsTer9
NM_001363846.1:c.768del	NP_001350775.1:p.Trp256CysfsTer9
XM_024450690.1:c.972del	XP_024306458.1:p.Trp324CysfsTer9
XM_024450691.1:c.972del	XP_024306459.1:p.Trp324CysfsTer9
XM_024450692.1:c.972del	XP_024306460.1:p.Trp324CysfsTer9
XM_024450693.1:c.972del	XP_024306461.1:p.Trp324CysfsTer9
NM_002055.5:c.768del MANE Select	NP_002046.1:p.Trp256CysfsTer9
NM_001131019.3:c.768del	NP_001124491.1:p.Trp256CysfsTer9
NM_001242376.2:c.768del	NP_001229305.1:p.Trp256CysfsTer9
NM_001242376.3:c.768del	NP_001229305.1:p.Trp256CysfsTer9
NM_001363846.2:c.768del	NP_001350775.1:p.Trp256CysfsTer9