Canonical Allele Identifier: CA626225494

Gene: GFAP

Linked Data

• dbSNP Id: rs1193917783
• gnomAD v2: 17-42988555-A-AAG
• gnomAD v4: 17-44911187-A-AAG
• MyVariant Identifiers: chr17:g.42988555_42988556insAG (hg19) ; chr17:g.44911187_44911188insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911187_44911188insAG , CM000679.2:g.44911187_44911188insAG	GRCh38
NC_000017.10:g.42988555_42988556insAG , CM000679.1:g.42988555_42988556insAG	GRCh37
NC_000017.9:g.40344081_40344082insAG	NCBI36
NG_008401.1:g.9359_9360insCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1127+48_1127+49insCT	ENSP00000253408.5:n.1127+48_1127+49insCT
ENST00000435360.8:c.1127+48_1127+49insCT	ENSP00000403962.1:n.1127+48_1127+49insCT
ENST00000253408.10:c.1127+48_1127+49insCT	ENSP00000253408.5:n.1127+48_1127+49insCT
ENST00000435360.7:c.1127+48_1127+49insCT	ENSP00000403962.1:n.1127+48_1127+49insCT
ENST00000585543.6:n.280+48_280+49insCT
ENST00000586125.2:c.62+48_62+49insCT	ENSP00000467397.2:n.62+48_62+49insCT
ENST00000586127.6:n.1656+48_1656+49insCT
ENST00000586793.6:c.992+48_992+49insCT	ENSP00000468500.2:n.992+48_992+49insCT
ENST00000587997.6:n.603+48_603+49insCT
ENST00000588735.3:c.1127+48_1127+49insCT MANE Select	ENSP00000466598.2:n.1127+48_1127+49insCT
ENST00000591327.2:n.2281+48_2281+49insCT
ENST00000591880.2:c.57+48_57+49insCT
ENST00000592320.6:c.704+48_704+49insCT	ENSP00000465320.1:n.704+48_704+49insCT
ENST00000638281.1:c.1127+48_1127+49insCT	ENSP00000491088.1:n.1127+48_1127+49insCT
ENST00000638304.1:c.46+48_46+49insCT
ENST00000638488.1:n.68+48_68+49insCT
ENST00000638618.1:c.782+48_782+49insCT	ENSP00000492832.1:n.782+48_782+49insCT
ENST00000639042.1:c.64+48_64+49insCT
ENST00000639277.1:c.1127+48_1127+49insCT	ENSP00000492432.1:n.1127+48_1127+49insCT
ENST00000639921.1:c.84+48_84+49insCT
ENST00000640552.1:n.1141+48_1141+49insCT
ENST00000253408.9:c.1127+48_1127+49insCT	ENSP00000253408.4:n.1127+48_1127+49insCT
ENST00000435360.6:c.1127+48_1127+49insCT	ENSP00000403962.1:n.1127+48_1127+49insCT
ENST00000585543.5:n.280+48_280+49insCT
ENST00000586793.5:c.1127+48_1127+49insCT	ENSP00000468500.1:n.1127+48_1127+49insCT
ENST00000588640.5:n.507+48_507+49insCT
ENST00000588735.1:c.83-3072_83-3071insCT	ENSP00000466598.1:n.83-3072_83-3071insCT
ENST00000592320.5:c.704+48_704+49insCT	ENSP00000465320.1:n.704+48_704+49insCT
NM_001131019.2:c.1127+48_1127+49insCT	NP_001124491.1:n.1127+48_1127+49insCT
NM_001242376.1:c.1127+48_1127+49insCT	NP_001229305.1:n.1127+48_1127+49insCT
NM_002055.4:c.1127+48_1127+49insCT	NP_002046.1:n.1127+48_1127+49insCT
NM_001363846.1:c.1127+48_1127+49insCT	NP_001350775.1:n.1127+48_1127+49insCT
XM_024450690.1:c.1331+48_1331+49insCT	XP_024306458.1:n.1331+48_1331+49insCT
XM_024450691.1:c.1331+48_1331+49insCT	XP_024306459.1:n.1331+48_1331+49insCT
XM_024450692.1:c.1331+48_1331+49insCT	XP_024306460.1:n.1331+48_1331+49insCT
XM_024450693.1:c.1331+48_1331+49insCT	XP_024306461.1:n.1331+48_1331+49insCT
NM_002055.5:c.1127+48_1127+49insCT MANE Select	NP_002046.1:n.1127+48_1127+49insCT
NM_001131019.3:c.1127+48_1127+49insCT	NP_001124491.1:n.1127+48_1127+49insCT
NM_001242376.2:c.1127+48_1127+49insCT	NP_001229305.1:n.1127+48_1127+49insCT
NM_001242376.3:c.1127+48_1127+49insCT	NP_001229305.1:n.1127+48_1127+49insCT
NM_001363846.2:c.1127+48_1127+49insCT	NP_001350775.1:n.1127+48_1127+49insCT