Canonical Allele Identifier: CA626225500

Gene: GFAP

Linked Data

• dbSNP Id: rs1361457409
• gnomAD v2: 17-42988564-C-CT
• gnomAD v4: 17-44911196-C-CT
• MyVariant Identifiers: chr17:g.42988564_42988565insT (hg19) ; chr17:g.44911196_44911197insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911196_44911197insT , CM000679.2:g.44911196_44911197insT	GRCh38
NC_000017.10:g.42988564_42988565insT , CM000679.1:g.42988564_42988565insT	GRCh37
NC_000017.9:g.40344090_40344091insT	NCBI36
NG_008401.1:g.9350_9351insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1127+39_1127+40insA	ENSP00000253408.5:n.1127+39_1127+40insA
ENST00000435360.8:c.1127+39_1127+40insA	ENSP00000403962.1:n.1127+39_1127+40insA
ENST00000253408.10:c.1127+39_1127+40insA	ENSP00000253408.5:n.1127+39_1127+40insA
ENST00000435360.7:c.1127+39_1127+40insA	ENSP00000403962.1:n.1127+39_1127+40insA
ENST00000585543.6:n.280+39_280+40insA
ENST00000586125.2:c.62+39_62+40insA	ENSP00000467397.2:n.62+39_62+40insA
ENST00000586127.6:n.1656+39_1656+40insA
ENST00000586793.6:c.992+39_992+40insA	ENSP00000468500.2:n.992+39_992+40insA
ENST00000587997.6:n.603+39_603+40insA
ENST00000588735.3:c.1127+39_1127+40insA MANE Select	ENSP00000466598.2:n.1127+39_1127+40insA
ENST00000591327.2:n.2281+39_2281+40insA
ENST00000591880.2:c.57+39_57+40insA
ENST00000592320.6:c.704+39_704+40insA	ENSP00000465320.1:n.704+39_704+40insA
ENST00000638281.1:c.1127+39_1127+40insA	ENSP00000491088.1:n.1127+39_1127+40insA
ENST00000638304.1:c.46+39_46+40insA
ENST00000638488.1:n.68+39_68+40insA
ENST00000638618.1:c.782+39_782+40insA	ENSP00000492832.1:n.782+39_782+40insA
ENST00000639042.1:c.64+39_64+40insA
ENST00000639277.1:c.1127+39_1127+40insA	ENSP00000492432.1:n.1127+39_1127+40insA
ENST00000639921.1:c.84+39_84+40insA
ENST00000640552.1:n.1141+39_1141+40insA
ENST00000253408.9:c.1127+39_1127+40insA	ENSP00000253408.4:n.1127+39_1127+40insA
ENST00000435360.6:c.1127+39_1127+40insA	ENSP00000403962.1:n.1127+39_1127+40insA
ENST00000585543.5:n.280+39_280+40insA
ENST00000586793.5:c.1127+39_1127+40insA	ENSP00000468500.1:n.1127+39_1127+40insA
ENST00000588640.5:n.507+39_507+40insA
ENST00000588735.1:c.83-3081_83-3080insA	ENSP00000466598.1:n.83-3081_83-3080insA
ENST00000592320.5:c.704+39_704+40insA	ENSP00000465320.1:n.704+39_704+40insA
NM_001131019.2:c.1127+39_1127+40insA	NP_001124491.1:n.1127+39_1127+40insA
NM_001242376.1:c.1127+39_1127+40insA	NP_001229305.1:n.1127+39_1127+40insA
NM_002055.4:c.1127+39_1127+40insA	NP_002046.1:n.1127+39_1127+40insA
NM_001363846.1:c.1127+39_1127+40insA	NP_001350775.1:n.1127+39_1127+40insA
XM_024450690.1:c.1331+39_1331+40insA	XP_024306458.1:n.1331+39_1331+40insA
XM_024450691.1:c.1331+39_1331+40insA	XP_024306459.1:n.1331+39_1331+40insA
XM_024450692.1:c.1331+39_1331+40insA	XP_024306460.1:n.1331+39_1331+40insA
XM_024450693.1:c.1331+39_1331+40insA	XP_024306461.1:n.1331+39_1331+40insA
NM_002055.5:c.1127+39_1127+40insA MANE Select	NP_002046.1:n.1127+39_1127+40insA
NM_001131019.3:c.1127+39_1127+40insA	NP_001124491.1:n.1127+39_1127+40insA
NM_001242376.2:c.1127+39_1127+40insA	NP_001229305.1:n.1127+39_1127+40insA
NM_001242376.3:c.1127+39_1127+40insA	NP_001229305.1:n.1127+39_1127+40insA
NM_001363846.2:c.1127+39_1127+40insA	NP_001350775.1:n.1127+39_1127+40insA