Canonical Allele Identifier: CA217173
Gene: GFAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66475
dbSNP Id: rs267607501

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44915228_44915231delinsACTC , CM000679.2:g.44915228_44915231delinsACTC GRCh38
NC_000017.9:g.40348122_40348125delinsACTC NCBI36
NC_000017.10:g.42992596_42992599delinsACTC , CM000679.1:g.42992596_42992599delinsACTC GRCh37
NG_008401.1:g.5316_5319delinsGAGT

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.9:c.256_259delinsGAGT ENSP00000253408.4:p.Lys86_Val87delinsGluP...
ENST00000376990.8:c.256_259delinsGAGT ENSP00000366189.4:p.Lys86_Val87delinsGluP...
ENST00000435360.6:c.256_259delinsGAGT ENSP00000403962.1:p.Lys86_Val87delinsGluP...
ENST00000585728.5:c.181+75_181+78delinsGAGT ENSP00000465208.1:p.=
ENST00000586793.5:c.256_259delinsGAGT ENSP00000468500.1:p.Lys86_Val87delinsGluP...
ENST00000588037.1:c.256_259delinsGAGT ENSP00000466163.1:p.Lys86_Val87delinsGluP...
ENST00000588316.1:c.256_259delinsGAGT ENSP00000465629.1:p.Lys86_Val87delinsGluP...
ENST00000588735.1:c.82+174_82+177delinsGAGT ENSP00000466598.1:p.=
ENST00000588957.5:c.-272+586_-272+589delinsGAGT ENSP00000465565.1:p.=
ENST00000591327.1:n.270_273delinsGAGT
ENST00000592320.5:c.256_259delinsGAGT ENSP00000465320.1:p.Lys86_Val87delinsGluP...
NM_001131019.2:c.256_259delinsGAGT VV NP_001124491.1:p.Lys86_Val87delinsGluPhe
NM_001242376.1:c.256_259delinsGAGT VV NP_001229305.1:p.Lys86_Val87delinsGluPhe
NM_002055.4:c.256_259delinsGAGT VV NP_002046.1:p.Lys86_Val87delinsGluPhe
NM_001363846.1:c.256_259delinsGAGT VV NP_001350775.1:p.Lys86_Val87delinsGluPhe
XM_024450690.1:c.256_259delinsGAGT XP_024306458.1:p.Lys86_Val87delinsGluPhe
XM_024450691.1:c.256_259delinsGAGT XP_024306459.1:p.Lys86_Val87delinsGluPhe
XM_024450692.1:c.256_259delinsGAGT XP_024306460.1:p.Lys86_Val87delinsGluPhe
XM_024450693.1:c.256_259delinsGAGT XP_024306461.1:p.Lys86_Val87delinsGluPhe