Canonical Allele Identifier: CA2261612501
Gene: GFAP HGNC NCBI

Linked Data

dbSNP Id: rs2051808886

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44912982del , CM000679.2:g.44912982del GRCh38
NC_000017.10:g.42990350del , CM000679.1:g.42990350del GRCh37
NC_000017.9:g.40345876del NCBI36
NG_008401.1:g.7567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.780+289del ENSP00000253408.5:n.780+289del
ENST00000435360.8:c.780+289del ENSP00000403962.1:n.780+289del
ENST00000253408.10:c.780+289del ENSP00000253408.5:n.780+289del
ENST00000435360.7:c.780+289del ENSP00000403962.1:n.780+289del
ENST00000586127.6:n.1309+289del
ENST00000586793.6:c.780+289del ENSP00000468500.2:n.780+289del
ENST00000587997.6:n.256+289del
ENST00000588735.3:c.780+289del MANE Select ENSP00000466598.2:n.780+289del
ENST00000591327.2:n.1934+289del
ENST00000592320.6:c.618+748del ENSP00000465320.1:n.618+748del
ENST00000638281.1:c.780+289del ENSP00000491088.1:n.780+289del
ENST00000638618.1:c.435+289del ENSP00000492832.1:n.435+289del
ENST00000639277.1:c.780+289del ENSP00000492432.1:n.780+289del
ENST00000640552.1:n.794+289del
ENST00000253408.9:c.780+289del ENSP00000253408.4:n.780+289del
ENST00000376990.8:c.*179+289del ENSP00000366189.4:n.*179+289del
ENST00000435360.6:c.780+289del ENSP00000403962.1:n.780+289del
ENST00000586793.5:c.780+289del ENSP00000468500.1:n.780+289del
ENST00000587997.5:c.256+289del
ENST00000588316.1:c.684+289del ENSP00000465629.1:n.684+289del
ENST00000588735.1:c.82+2425del ENSP00000466598.1:n.82+2425del
ENST00000588957.5:c.48+289del ENSP00000465565.1:n.48+289del
ENST00000590922.1:n.430+289del
ENST00000592320.5:c.618+748del ENSP00000465320.1:n.618+748del
NM_001131019.2:c.780+289del NP_001124491.1:n.780+289del
NM_001242376.1:c.780+289del NP_001229305.1:n.780+289del
NM_002055.4:c.780+289del NP_002046.1:n.780+289del
NM_001363846.1:c.780+289del NP_001350775.1:n.780+289del
XM_024450690.1:c.984+289del XP_024306458.1:n.984+289del
XM_024450691.1:c.984+289del XP_024306459.1:n.984+289del
XM_024450692.1:c.984+289del XP_024306460.1:n.984+289del
XM_024450693.1:c.984+289del XP_024306461.1:n.984+289del
NM_002055.5:c.780+289del MANE Select NP_002046.1:n.780+289del
NM_001131019.3:c.780+289del NP_001124491.1:n.780+289del
NM_001242376.2:c.780+289del NP_001229305.1:n.780+289del
NM_001242376.3:c.780+289del NP_001229305.1:n.780+289del
NM_001363846.2:c.780+289del NP_001350775.1:n.780+289del