Canonical Allele Identifier: CA2638262540
Gene: GFAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44908255_44908256del , CM000679.2:g.44908255_44908256del GRCh38
NC_000017.10:g.42985623_42985624del , CM000679.1:g.42985623_42985624del GRCh37
NC_000017.9:g.40341149_40341150del NCBI36
NG_008401.1:g.12293_12294del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.1292-105_1292-104del ENSP00000253408.5:n.1292-105_1292-104del
ENST00000253408.10:c.1292-105_1292-104del ENSP00000253408.5:n.1292-105_1292-104del
ENST00000441312.2:n.25-105_25-104del
ENST00000585543.6:n.325-105_325-104del
ENST00000586125.2:c.107-105_107-104del ENSP00000467397.2:n.107-105_107-104del
ENST00000588735.3:c.1172-105_1172-104del MANE Select ENSP00000466598.2:n.1172-105_1172-104del
ENST00000589701.2:n.1974_1975del
ENST00000591880.2:c.271-105_271-104del
ENST00000592065.2:n.435_436del
ENST00000638304.1:c.91-105_91-104del
ENST00000638400.1:c.7-105_7-104del
ENST00000638488.1:n.636-105_636-104del
ENST00000638618.1:c.827-105_827-104del ENSP00000492832.1:n.827-105_827-104del
ENST00000639042.1:c.144-105_144-104del
ENST00000639277.1:c.1172-105_1172-104del ENSP00000492432.1:n.1172-105_1172-104del
ENST00000639369.1:c.22-105_22-104del
ENST00000640552.1:n.3546_3547del
ENST00000253408.9:c.1172-105_1172-104del ENSP00000253408.4:n.1172-105_1172-104del
ENST00000585543.5:n.325-105_325-104del
ENST00000586125.1:c.143-105_143-104del ENSP00000467397.1:n.143-105_143-104del
ENST00000588640.5:n.552-105_552-104del
ENST00000588735.1:c.83-138_83-137del ENSP00000466598.1:n.83-138_83-137del
ENST00000591880.1:c.38-105_38-104del ENSP00000467530.1:n.38-105_38-104del
ENST00000592706.5:n.44-105_44-104del
NM_002055.4:c.1172-105_1172-104del NP_002046.1:n.1172-105_1172-104del
NM_001363846.1:c.1292-105_1292-104del NP_001350775.1:n.1292-105_1292-104del
XM_024450690.1:c.1496-105_1496-104del XP_024306458.1:n.1496-105_1496-104del
XM_024450692.1:c.1376-105_1376-104del XP_024306460.1:n.1376-105_1376-104del
NM_002055.5:c.1172-105_1172-104del MANE Select NP_002046.1:n.1172-105_1172-104del
NM_001242376.2:c.*2215_*2216del NP_001229305.1:n.*2215_*2216del
NM_001363846.2:c.1292-105_1292-104del NP_001350775.1:n.1292-105_1292-104del