Canonical Allele Identifier: CA2638272765

Gene: GFAP

Linked Data

• gnomAD v4: 17-44911183-CTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911184_44911186del , CM000679.2:g.44911184_44911186del	GRCh38
NC_000017.10:g.42988552_42988554del , CM000679.1:g.42988552_42988554del	GRCh37
NC_000017.9:g.40344078_40344080del	NCBI36
NG_008401.1:g.9361_9363del

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1127+50_1127+52del	ENSP00000253408.5:n.1127+50_1127+52del
ENST00000435360.8:c.1127+50_1127+52del	ENSP00000403962.1:n.1127+50_1127+52del
ENST00000253408.10:c.1127+50_1127+52del	ENSP00000253408.5:n.1127+50_1127+52del
ENST00000435360.7:c.1127+50_1127+52del	ENSP00000403962.1:n.1127+50_1127+52del
ENST00000585543.6:n.280+50_280+52del
ENST00000586125.2:c.62+50_62+52del	ENSP00000467397.2:n.62+50_62+52del
ENST00000586127.6:n.1656+50_1656+52del
ENST00000586793.6:c.992+50_992+52del	ENSP00000468500.2:n.992+50_992+52del
ENST00000587997.6:n.603+50_603+52del
ENST00000588735.3:c.1127+50_1127+52del MANE Select	ENSP00000466598.2:n.1127+50_1127+52del
ENST00000591327.2:n.2281+50_2281+52del
ENST00000591880.2:c.57+50_57+52del
ENST00000592320.6:c.704+50_704+52del	ENSP00000465320.1:n.704+50_704+52del
ENST00000638281.1:c.1127+50_1127+52del	ENSP00000491088.1:n.1127+50_1127+52del
ENST00000638304.1:c.46+50_46+52del
ENST00000638488.1:n.68+50_68+52del
ENST00000638618.1:c.782+50_782+52del	ENSP00000492832.1:n.782+50_782+52del
ENST00000639042.1:c.64+50_64+52del
ENST00000639277.1:c.1127+50_1127+52del	ENSP00000492432.1:n.1127+50_1127+52del
ENST00000639921.1:c.84+50_84+52del
ENST00000640552.1:n.1141+50_1141+52del
ENST00000253408.9:c.1127+50_1127+52del	ENSP00000253408.4:n.1127+50_1127+52del
ENST00000435360.6:c.1127+50_1127+52del	ENSP00000403962.1:n.1127+50_1127+52del
ENST00000585543.5:n.280+50_280+52del
ENST00000586793.5:c.1127+50_1127+52del	ENSP00000468500.1:n.1127+50_1127+52del
ENST00000588640.5:n.507+50_507+52del
ENST00000588735.1:c.83-3070_83-3068del	ENSP00000466598.1:n.83-3070_83-3068del
ENST00000592320.5:c.704+50_704+52del	ENSP00000465320.1:n.704+50_704+52del
NM_001131019.2:c.1127+50_1127+52del	NP_001124491.1:n.1127+50_1127+52del
NM_001242376.1:c.1127+50_1127+52del	NP_001229305.1:n.1127+50_1127+52del
NM_002055.4:c.1127+50_1127+52del	NP_002046.1:n.1127+50_1127+52del
NM_001363846.1:c.1127+50_1127+52del	NP_001350775.1:n.1127+50_1127+52del
XM_024450690.1:c.1331+50_1331+52del	XP_024306458.1:n.1331+50_1331+52del
XM_024450691.1:c.1331+50_1331+52del	XP_024306459.1:n.1331+50_1331+52del
XM_024450692.1:c.1331+50_1331+52del	XP_024306460.1:n.1331+50_1331+52del
XM_024450693.1:c.1331+50_1331+52del	XP_024306461.1:n.1331+50_1331+52del
NM_002055.5:c.1127+50_1127+52del MANE Select	NP_002046.1:n.1127+50_1127+52del
NM_001131019.3:c.1127+50_1127+52del	NP_001124491.1:n.1127+50_1127+52del
NM_001242376.2:c.1127+50_1127+52del	NP_001229305.1:n.1127+50_1127+52del
NM_001242376.3:c.1127+50_1127+52del	NP_001229305.1:n.1127+50_1127+52del
NM_001363846.2:c.1127+50_1127+52del	NP_001350775.1:n.1127+50_1127+52del