Canonical Allele Identifier: CA2695226369
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911369_44911375delinsTCAGCCC , CM000679.2:g.44911369_44911375delinsTCAGCCC GRCh38
NC_000017.10:g.42988737_42988743delinsTCAGCCC , CM000679.1:g.42988737_42988743delinsTCAGCCC GRCh37
NC_000017.9:g.40344263_40344269delinsTCAGCCC NCBI36
NG_008401.1:g.9172_9178delinsGGGCTGA

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.988_994delinsGGGCTGA ENSP00000253408.5:p.Arg330_Glu332delinsGl...
ENST00000435360.8:c.988_994delinsGGGCTGA ENSP00000403962.1:p.Arg330_Glu332delinsGl...
ENST00000253408.10:c.988_994delinsGGGCTGA ENSP00000253408.5:p.Arg330_Glu332delinsGl...
ENST00000435360.7:c.988_994delinsGGGCTGA ENSP00000403962.1:p.Arg330_Glu332delinsGl...
ENST00000585543.6:n.141_147delinsGGGCTGA
ENST00000586127.6:n.1517_1523delinsGGGCTGA
ENST00000586793.6:c.907-54_907-48delinsGGGCTGA ENSP00000468500.2:n.907-54_907-48delinsGG...
ENST00000587997.6:n.464_470delinsGGGCTGA
ENST00000588735.3:c.988_994delinsGGGCTGA MANE Select ENSP00000466598.2:p.Arg330_Glu332delinsGl...
ENST00000591327.2:n.2142_2148delinsGGGCTGA
ENST00000592320.6:c.619-54_619-48delinsGGGCTGA ENSP00000465320.1:n.619-54_619-48delinsGG...
ENST00000638281.1:c.988_994delinsGGGCTGA ENSP00000491088.1:p.Arg330_Glu332delinsGl...
ENST00000638618.1:c.643_649delinsGGGCTGA ENSP00000492832.1:p.Arg215_Glu217delinsGl...
ENST00000639277.1:c.988_994delinsGGGCTGA ENSP00000492432.1:p.Arg330_Glu332delinsGl...
ENST00000640552.1:n.1002_1008delinsGGGCTGA
ENST00000253408.9:c.988_994delinsGGGCTGA ENSP00000253408.4:p.Arg330_Glu332delinsGl...
ENST00000376990.8:c.*387_*393delinsGGGCTGA ENSP00000366189.4:n.*387_*393delinsGGGCTG...
ENST00000435360.6:c.988_994delinsGGGCTGA ENSP00000403962.1:p.Arg330_Glu332delinsGl...
ENST00000585543.5:n.141_147delinsGGGCTGA
ENST00000586793.5:c.988_994delinsGGGCTGA ENSP00000468500.1:p.Arg330_Glu332delinsGl...
ENST00000587997.5:c.464_470delinsGGGCTGA
ENST00000588640.5:n.368_374delinsGGGCTGA
ENST00000588735.1:c.83-3259_83-3253delinsGGGCTGA ENSP00000466598.1:n.83-3259_83-3253delins...
ENST00000592320.5:c.619-54_619-48delinsGGGCTGA ENSP00000465320.1:n.619-54_619-48delinsGG...
NM_001131019.2:c.988_994delinsGGGCTGA NP_001124491.1:p.Arg330_Glu332delinsGlyLe...
NM_001242376.1:c.988_994delinsGGGCTGA NP_001229305.1:p.Arg330_Glu332delinsGlyLe...
NM_002055.4:c.988_994delinsGGGCTGA NP_002046.1:p.Arg330_Glu332delinsGlyLeuLy...
NM_001363846.1:c.988_994delinsGGGCTGA NP_001350775.1:p.Arg330_Glu332delinsGlyLe...
XM_024450690.1:c.1192_1198delinsGGGCTGA XP_024306458.1:p.Arg398_Glu400delinsGlyLe...
XM_024450691.1:c.1192_1198delinsGGGCTGA XP_024306459.1:p.Arg398_Glu400delinsGlyLe...
XM_024450692.1:c.1192_1198delinsGGGCTGA XP_024306460.1:p.Arg398_Glu400delinsGlyLe...
XM_024450693.1:c.1192_1198delinsGGGCTGA XP_024306461.1:p.Arg398_Glu400delinsGlyLe...
NM_002055.5:c.988_994delinsGGGCTGA MANE Select NP_002046.1:p.Arg330_Glu332delinsGlyLeuLy...
NM_001131019.3:c.988_994delinsGGGCTGA NP_001124491.1:p.Arg330_Glu332delinsGlyLe...
NM_001242376.2:c.988_994delinsGGGCTGA NP_001229305.1:p.Arg330_Glu332delinsGlyLe...
NM_001242376.3:c.988_994delinsGGGCTGA NP_001229305.1:p.Arg330_Glu332delinsGlyLe...
NM_001363846.2:c.988_994delinsGGGCTGA NP_001350775.1:p.Arg330_Glu332delinsGlyLe...