Canonical Allele Identifier: CA2638262177
Gene: GFAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44908206_44908209del , CM000679.2:g.44908206_44908209del GRCh38
NC_000017.10:g.42985574_42985577del , CM000679.1:g.42985574_42985577del GRCh37
NC_000017.9:g.40341100_40341103del NCBI36
NG_008401.1:g.12339_12342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.1292-59_1292-56del ENSP00000253408.5:n.1292-59_1292-56del
ENST00000253408.10:c.1292-59_1292-56del ENSP00000253408.5:n.1292-59_1292-56del
ENST00000441312.2:n.25-59_25-56del
ENST00000585543.6:n.325-59_325-56del
ENST00000586125.2:c.107-59_107-56del ENSP00000467397.2:n.107-59_107-56del
ENST00000588735.3:c.1172-59_1172-56del MANE Select ENSP00000466598.2:n.1172-59_1172-56del
ENST00000589701.2:n.2020_2023del
ENST00000591880.2:c.271-59_271-56del
ENST00000592065.2:n.481_484del
ENST00000638304.1:c.91-59_91-56del
ENST00000638400.1:c.7-59_7-56del
ENST00000638488.1:n.636-59_636-56del
ENST00000638618.1:c.827-59_827-56del ENSP00000492832.1:n.827-59_827-56del
ENST00000638921.1:n.40_43del
ENST00000639042.1:c.144-59_144-56del
ENST00000639277.1:c.1172-59_1172-56del ENSP00000492432.1:n.1172-59_1172-56del
ENST00000639369.1:c.22-59_22-56del
ENST00000253408.9:c.1172-59_1172-56del ENSP00000253408.4:n.1172-59_1172-56del
ENST00000585543.5:n.325-59_325-56del
ENST00000586125.1:c.143-59_143-56del ENSP00000467397.1:n.143-59_143-56del
ENST00000588640.5:n.552-59_552-56del
ENST00000588735.1:c.83-92_83-89del ENSP00000466598.1:n.83-92_83-89del
ENST00000589701.1:n.15_18del
ENST00000591880.1:c.38-59_38-56del ENSP00000467530.1:n.38-59_38-56del
ENST00000592706.5:n.44-59_44-56del
NM_002055.4:c.1172-59_1172-56del NP_002046.1:n.1172-59_1172-56del
NM_001363846.1:c.1292-59_1292-56del NP_001350775.1:n.1292-59_1292-56del
XM_024450690.1:c.1496-59_1496-56del XP_024306458.1:n.1496-59_1496-56del
XM_024450692.1:c.1376-59_1376-56del XP_024306460.1:n.1376-59_1376-56del
NM_002055.5:c.1172-59_1172-56del MANE Select NP_002046.1:n.1172-59_1172-56del
NM_001363846.2:c.1292-59_1292-56del NP_001350775.1:n.1292-59_1292-56del