Canonical Allele Identifier: CA2576294435

Gene: GFAP

Linked Data

• dbSNP Id: rs2145632382
• gnomAD v3: 17-44911177-GAT-G
• gnomAD v4: 17-44911177-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911178_44911179del , CM000679.2:g.44911178_44911179del	GRCh38
NC_000017.10:g.42988546_42988547del , CM000679.1:g.42988546_42988547del	GRCh37
NC_000017.9:g.40344072_40344073del	NCBI36
NG_008401.1:g.9368_9369del

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1127+57_1127+58del	ENSP00000253408.5:n.1127+57_1127+58del
ENST00000435360.8:c.1127+57_1127+58del	ENSP00000403962.1:n.1127+57_1127+58del
ENST00000253408.10:c.1127+57_1127+58del	ENSP00000253408.5:n.1127+57_1127+58del
ENST00000435360.7:c.1127+57_1127+58del	ENSP00000403962.1:n.1127+57_1127+58del
ENST00000585543.6:n.280+57_280+58del
ENST00000586125.2:c.62+57_62+58del	ENSP00000467397.2:n.62+57_62+58del
ENST00000586127.6:n.1656+57_1656+58del
ENST00000586793.6:c.992+57_992+58del	ENSP00000468500.2:n.992+57_992+58del
ENST00000587997.6:n.603+57_603+58del
ENST00000588735.3:c.1127+57_1127+58del MANE Select	ENSP00000466598.2:n.1127+57_1127+58del
ENST00000591327.2:n.2281+57_2281+58del
ENST00000591880.2:c.57+57_57+58del
ENST00000592320.6:c.704+57_704+58del	ENSP00000465320.1:n.704+57_704+58del
ENST00000638281.1:c.1127+57_1127+58del	ENSP00000491088.1:n.1127+57_1127+58del
ENST00000638304.1:c.46+57_46+58del
ENST00000638488.1:n.68+57_68+58del
ENST00000638618.1:c.782+57_782+58del	ENSP00000492832.1:n.782+57_782+58del
ENST00000639042.1:c.64+57_64+58del
ENST00000639277.1:c.1127+57_1127+58del	ENSP00000492432.1:n.1127+57_1127+58del
ENST00000639921.1:c.84+57_84+58del
ENST00000640552.1:n.1141+57_1141+58del
ENST00000253408.9:c.1127+57_1127+58del	ENSP00000253408.4:n.1127+57_1127+58del
ENST00000435360.6:c.1127+57_1127+58del	ENSP00000403962.1:n.1127+57_1127+58del
ENST00000585543.5:n.280+57_280+58del
ENST00000586793.5:c.1127+57_1127+58del	ENSP00000468500.1:n.1127+57_1127+58del
ENST00000588640.5:n.507+57_507+58del
ENST00000588735.1:c.83-3063_83-3062del	ENSP00000466598.1:n.83-3063_83-3062del
ENST00000592320.5:c.704+57_704+58del	ENSP00000465320.1:n.704+57_704+58del
NM_001131019.2:c.1127+57_1127+58del	NP_001124491.1:n.1127+57_1127+58del
NM_001242376.1:c.1127+57_1127+58del	NP_001229305.1:n.1127+57_1127+58del
NM_002055.4:c.1127+57_1127+58del	NP_002046.1:n.1127+57_1127+58del
NM_001363846.1:c.1127+57_1127+58del	NP_001350775.1:n.1127+57_1127+58del
XM_024450690.1:c.1331+57_1331+58del	XP_024306458.1:n.1331+57_1331+58del
XM_024450691.1:c.1331+57_1331+58del	XP_024306459.1:n.1331+57_1331+58del
XM_024450692.1:c.1331+57_1331+58del	XP_024306460.1:n.1331+57_1331+58del
XM_024450693.1:c.1331+57_1331+58del	XP_024306461.1:n.1331+57_1331+58del
NM_002055.5:c.1127+57_1127+58del MANE Select	NP_002046.1:n.1127+57_1127+58del
NM_001131019.3:c.1127+57_1127+58del	NP_001124491.1:n.1127+57_1127+58del
NM_001242376.2:c.1127+57_1127+58del	NP_001229305.1:n.1127+57_1127+58del
NM_001242376.3:c.1127+57_1127+58del	NP_001229305.1:n.1127+57_1127+58del
NM_001363846.2:c.1127+57_1127+58del	NP_001350775.1:n.1127+57_1127+58del