Canonical Allele Identifier: CA347236
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 190365
ClinVar RCV Id: RCV000192187
dbSNP Id: rs797044591

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44908074del , CM000679.2:g.44908074del GRCh38
NC_000017.10:g.42985442del , CM000679.1:g.42985442del GRCh37
NC_000017.9:g.40340968del NCBI36
NG_008401.1:g.12475del

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1369del ENSP00000253408.5:p.Asp457MetfsTer15
ENST00000253408.10:c.1369del ENSP00000253408.5:p.Asp457MetfsTer15
ENST00000441312.2:n.102del
ENST00000585543.6:n.402del
ENST00000586125.2:c.184del ENSP00000467397.2:p.Asp62MetfsTer4
ENST00000588735.3:c.1249del MANE Select ENSP00000466598.2:p.Asp417MetfsTer15
ENST00000589701.2:n.2156del
ENST00000591880.2:c.348del
ENST00000592065.2:n.617del
ENST00000638304.1:c.168del
ENST00000638400.1:c.84del
ENST00000638488.1:n.713del
ENST00000638618.1:c.904del ENSP00000492832.1:p.Asp302MetfsTer?
ENST00000638921.1:n.176del
ENST00000639042.1:c.221del
ENST00000639243.1:c.5del
ENST00000639277.1:c.1249del ENSP00000492432.1:p.Asp417MetfsTer?
ENST00000639369.1:c.99del
ENST00000640545.1:c.55del ENSP00000491735.1:p.Asp19MetfsTer?
ENST00000640859.1:c.63del
ENST00000253408.9:c.1249del ENSP00000253408.4:p.Asp417MetfsTer15
ENST00000585543.5:n.402del
ENST00000588735.1:c.127del ENSP00000466598.1:p.Asp43MetfsTer15
ENST00000589701.1:n.151del
ENST00000591880.1:c.115del ENSP00000467530.1:p.Asp39MetfsTer4
ENST00000592065.1:n.43del
ENST00000592706.5:n.121del
NM_002055.4:c.1249del NP_002046.1:p.Asp417MetfsTer15
NM_001363846.1:c.1369del NP_001350775.1:p.Asp457MetfsTer15
XM_024450690.1:c.1573del XP_024306458.1:p.Asp525MetfsTer15
XM_024450692.1:c.1453del XP_024306460.1:p.Asp485MetfsTer15
NM_002055.5:c.1249del MANE Select NP_002046.1:p.Asp417MetfsTer15
NM_001363846.2:c.1369del NP_001350775.1:p.Asp457MetfsTer15