Canonical Allele Identifier: CA2638275659

Gene: GFAP

Linked Data

• gnomAD v4: 17-44913357-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913359del , CM000679.2:g.44913359del	GRCh38
NC_000017.10:g.42990727del , CM000679.1:g.42990727del	GRCh37
NC_000017.9:g.40346253del	NCBI36
NG_008401.1:g.7189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.691del	ENSP00000253408.5:p.Leu231SerfsTer5
ENST00000435360.8:c.691del	ENSP00000403962.1:p.Leu231SerfsTer5
ENST00000253408.10:c.691del	ENSP00000253408.5:p.Leu231SerfsTer5
ENST00000435360.7:c.691del	ENSP00000403962.1:p.Leu231SerfsTer5
ENST00000586127.6:n.1220del
ENST00000586793.6:c.691del	ENSP00000468500.2:p.Leu231SerfsTer5
ENST00000587997.6:n.167del
ENST00000588735.3:c.691del MANE Select	ENSP00000466598.2:p.Leu231SerfsTer5
ENST00000591327.2:n.1845del
ENST00000592320.6:c.618+370del	ENSP00000465320.1:n.618+370del
ENST00000638281.1:c.691del	ENSP00000491088.1:p.Leu231SerfsTer5
ENST00000638618.1:c.346del	ENSP00000492832.1:p.Leu116SerfsTer5
ENST00000639277.1:c.691del	ENSP00000492432.1:p.Leu231SerfsTer5
ENST00000640552.1:n.705del
ENST00000253408.9:c.691del	ENSP00000253408.4:p.Leu231SerfsTer5
ENST00000376990.8:c.*90del	ENSP00000366189.4:n.*90del
ENST00000435360.6:c.691del	ENSP00000403962.1:p.Leu231SerfsTer5
ENST00000585728.5:c.*335del	ENSP00000465208.1:n.*335del
ENST00000586127.5:c.30del	ENSP00000464795.1:p.Ser11HisfsTer?
ENST00000586793.5:c.691del	ENSP00000468500.1:p.Leu231SerfsTer5
ENST00000587997.5:c.167del
ENST00000588316.1:c.595del	ENSP00000465629.1:p.Leu199SerfsTer5
ENST00000588735.1:c.82+2047del	ENSP00000466598.1:n.82+2047del
ENST00000588957.5:c.-42del	ENSP00000465565.1:n.-42del
ENST00000590922.1:n.341del
ENST00000592320.5:c.618+370del	ENSP00000465320.1:n.618+370del
NM_001131019.2:c.691del	NP_001124491.1:p.Leu231SerfsTer5
NM_001242376.1:c.691del	NP_001229305.1:p.Leu231SerfsTer5
NM_002055.4:c.691del	NP_002046.1:p.Leu231SerfsTer5
NM_001363846.1:c.691del	NP_001350775.1:p.Leu231SerfsTer5
XM_024450690.1:c.895del	XP_024306458.1:p.Leu299SerfsTer5
XM_024450691.1:c.895del	XP_024306459.1:p.Leu299SerfsTer5
XM_024450692.1:c.895del	XP_024306460.1:p.Leu299SerfsTer5
XM_024450693.1:c.895del	XP_024306461.1:p.Leu299SerfsTer5
NM_002055.5:c.691del MANE Select	NP_002046.1:p.Leu231SerfsTer5
NM_001131019.3:c.691del	NP_001124491.1:p.Leu231SerfsTer5
NM_001242376.2:c.691del	NP_001229305.1:p.Leu231SerfsTer5
NM_001242376.3:c.691del	NP_001229305.1:p.Leu231SerfsTer5
NM_001363846.2:c.691del	NP_001350775.1:p.Leu231SerfsTer5