Canonical Allele Identifier: CA8608763

Gene: GFAP

Linked Data

• ClinVar Variation Id: 1675270
• ClinVar RCV Id: RCV002210999
• dbSNP Id: rs765762750
• ExAC: 17:42988666 GACATTGAGCAGGTCCTGGTACTCCTGCAA / G
• gnomAD v2: 17-42988666-GACATTGAGCAGGTCCTGGTACTCCTGCAA-G
• gnomAD v3: 17-44911298-GACATTGAGCAGGTCCTGGTACTCCTGCAA-G
• gnomAD v4: 17-44911298-GACATTGAGCAGGTCCTGGTACTCCTGCAA-G
• MyVariant Identifiers: chr17:g.42988667_42988695del (hg19) ; chr17:g.44911299_44911327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911299_44911327del , CM000679.2:g.44911299_44911327del	GRCh38
NC_000017.10:g.42988667_42988695del , CM000679.1:g.42988667_42988695del	GRCh37
NC_000017.9:g.40344193_40344221del	NCBI36
NG_008401.1:g.9220_9248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1036_1064del	ENSP00000253408.5:p.Leu346GlnfsTer?
ENST00000435360.8:c.1036_1064del	ENSP00000403962.1:p.Leu346GlnfsTer?
ENST00000253408.10:c.1036_1064del	ENSP00000253408.5:p.Leu346GlnfsTer?
ENST00000435360.7:c.1036_1064del	ENSP00000403962.1:p.Leu346GlnfsTer?
ENST00000585543.6:n.189_217del
ENST00000586127.6:n.1565_1593del
ENST00000586793.6:c.907-6_929del
ENST00000587997.6:n.512_540del
ENST00000588735.3:c.1036_1064del MANE Select	ENSP00000466598.2:p.Leu346GlnfsTer?
ENST00000591327.2:n.2190_2218del
ENST00000592320.6:c.619-6_641del
ENST00000638281.1:c.1036_1064del	ENSP00000491088.1:p.Leu346GlnfsTer?
ENST00000638618.1:c.691_719del	ENSP00000492832.1:p.Leu231GlnfsTer?
ENST00000639277.1:c.1036_1064del	ENSP00000492432.1:p.Leu346GlnfsTer?
ENST00000640552.1:n.1050_1078del
ENST00000253408.9:c.1036_1064del	ENSP00000253408.4:p.Leu346GlnfsTer?
ENST00000435360.6:c.1036_1064del	ENSP00000403962.1:p.Leu346GlnfsTer?
ENST00000585543.5:n.189_217del
ENST00000586793.5:c.1036_1064del	ENSP00000468500.1:p.Leu346GlnfsTer?
ENST00000587997.5:c.512_540del
ENST00000588640.5:n.416_444del
ENST00000588735.1:c.83-3211_83-3183del	ENSP00000466598.1:n.83-3211_83-3183del
ENST00000592320.5:c.619-6_641del
NM_001131019.2:c.1036_1064del	NP_001124491.1:p.Leu346GlnfsTer?
NM_001242376.1:c.1036_1064del	NP_001229305.1:p.Leu346GlnfsTer?
NM_002055.4:c.1036_1064del	NP_002046.1:p.Leu346GlnfsTer?
NM_001363846.1:c.1036_1064del	NP_001350775.1:p.Leu346GlnfsTer?
XM_024450690.1:c.1240_1268del	XP_024306458.1:p.Leu414GlnfsTer?
XM_024450691.1:c.1240_1268del	XP_024306459.1:p.Leu414GlnfsTer?
XM_024450692.1:c.1240_1268del	XP_024306460.1:p.Leu414GlnfsTer?
XM_024450693.1:c.1240_1268del	XP_024306461.1:p.Leu414GlnfsTer?
NM_002055.5:c.1036_1064del MANE Select	NP_002046.1:p.Leu346GlnfsTer?
NM_001131019.3:c.1036_1064del	NP_001124491.1:p.Leu346GlnfsTer?
NM_001242376.2:c.1036_1064del	NP_001229305.1:p.Leu346GlnfsTer?
NM_001242376.3:c.1036_1064del	NP_001229305.1:p.Leu346GlnfsTer?
NM_001363846.2:c.1036_1064del	NP_001350775.1:p.Leu346GlnfsTer?