Canonical Allele Identifier: CA291030582
Gene: GFAP HGNC NCBI

Linked Data

dbSNP Id: rs35909232

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44913097del , CM000679.2:g.44913097del GRCh38
NC_000017.10:g.42990465del , CM000679.1:g.42990465del GRCh37
NC_000017.9:g.40345991del NCBI36
NG_008401.1:g.7453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.780+175del ENSP00000253408.5:n.780+175del
ENST00000435360.8:c.780+175del ENSP00000403962.1:n.780+175del
ENST00000253408.10:c.780+175del ENSP00000253408.5:n.780+175del
ENST00000435360.7:c.780+175del ENSP00000403962.1:n.780+175del
ENST00000586127.6:n.1309+175del
ENST00000586793.6:c.780+175del ENSP00000468500.2:n.780+175del
ENST00000587997.6:n.256+175del
ENST00000588735.3:c.780+175del MANE Select ENSP00000466598.2:n.780+175del
ENST00000591327.2:n.1934+175del
ENST00000592320.6:c.618+634del ENSP00000465320.1:n.618+634del
ENST00000638281.1:c.780+175del ENSP00000491088.1:n.780+175del
ENST00000638618.1:c.435+175del ENSP00000492832.1:n.435+175del
ENST00000639277.1:c.780+175del ENSP00000492432.1:n.780+175del
ENST00000640552.1:n.794+175del
ENST00000253408.9:c.780+175del ENSP00000253408.4:n.780+175del
ENST00000376990.8:c.*179+175del ENSP00000366189.4:n.*179+175del
ENST00000435360.6:c.780+175del ENSP00000403962.1:n.780+175del
ENST00000586793.5:c.780+175del ENSP00000468500.1:n.780+175del
ENST00000587997.5:c.256+175del
ENST00000588316.1:c.684+175del ENSP00000465629.1:n.684+175del
ENST00000588735.1:c.82+2311del ENSP00000466598.1:n.82+2311del
ENST00000588957.5:c.48+175del ENSP00000465565.1:n.48+175del
ENST00000590922.1:n.430+175del
ENST00000592320.5:c.618+634del ENSP00000465320.1:n.618+634del
NM_001131019.2:c.780+175del NP_001124491.1:n.780+175del
NM_001242376.1:c.780+175del NP_001229305.1:n.780+175del
NM_002055.4:c.780+175del NP_002046.1:n.780+175del
NM_001363846.1:c.780+175del NP_001350775.1:n.780+175del
XM_024450690.1:c.984+175del XP_024306458.1:n.984+175del
XM_024450691.1:c.984+175del XP_024306459.1:n.984+175del
XM_024450692.1:c.984+175del XP_024306460.1:n.984+175del
XM_024450693.1:c.984+175del XP_024306461.1:n.984+175del
NM_002055.5:c.780+175del MANE Select NP_002046.1:n.780+175del
NM_001131019.3:c.780+175del NP_001124491.1:n.780+175del
NM_001242376.2:c.780+175del NP_001229305.1:n.780+175del
NM_001242376.3:c.780+175del NP_001229305.1:n.780+175del
NM_001363846.2:c.780+175del NP_001350775.1:n.780+175del