Canonical Allele Identifier: CA8608931

Gene: GFAP

Linked Data

• dbSNP Id: rs749182903
• ExAC: 17:42991022 TTCTCTG / T
• gnomAD v2: 17-42991022-TTCTCTG-T
• gnomAD v4: 17-44913654-TTCTCTG-T
• MyVariant Identifiers: chr17:g.42991023_42991028del (hg19) ; chr17:g.44913655_44913660del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913666_44913671del , CM000679.2:g.44913666_44913671del	GRCh38
NC_000017.10:g.42991034_42991039del , CM000679.1:g.42991034_42991039del	GRCh37
NC_000017.9:g.40346560_40346565del	NCBI36
NG_008401.1:g.6887_6892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.618+68_618+73del	ENSP00000253408.5:n.618+68_618+73del
ENST00000435360.8:c.618+68_618+73del	ENSP00000403962.1:n.618+68_618+73del
ENST00000253408.10:c.618+68_618+73del	ENSP00000253408.5:n.618+68_618+73del
ENST00000435360.7:c.618+68_618+73del	ENSP00000403962.1:n.618+68_618+73del
ENST00000586127.6:n.1147+68_1147+73del
ENST00000586793.6:c.618+68_618+73del	ENSP00000468500.2:n.618+68_618+73del
ENST00000587997.6:n.37_42del
ENST00000588735.3:c.618+68_618+73del MANE Select	ENSP00000466598.2:n.618+68_618+73del
ENST00000591327.2:n.1772+68_1772+73del
ENST00000592320.6:c.618+68_618+73del	ENSP00000465320.1:n.618+68_618+73del
ENST00000638281.1:c.618+68_618+73del	ENSP00000491088.1:n.618+68_618+73del
ENST00000638618.1:c.273+68_273+73del	ENSP00000492832.1:n.273+68_273+73del
ENST00000639277.1:c.618+68_618+73del	ENSP00000492432.1:n.618+68_618+73del
ENST00000640552.1:n.632+68_632+73del
ENST00000253408.9:c.618+68_618+73del	ENSP00000253408.4:n.618+68_618+73del
ENST00000376990.8:c.*17+68_*17+73del	ENSP00000366189.4:n.*17+68_*17+73del
ENST00000435360.6:c.618+68_618+73del	ENSP00000403962.1:n.618+68_618+73del
ENST00000585728.5:c.*262+68_*262+73del	ENSP00000465208.1:n.*262+68_*262+73del
ENST00000586127.5:c.-44+68_-44+73del	ENSP00000464795.1:n.-44+68_-44+73del
ENST00000586793.5:c.618+68_618+73del	ENSP00000468500.1:n.618+68_618+73del
ENST00000587997.5:c.37_42del
ENST00000588316.1:c.523-230_523-225del	ENSP00000465629.1:n.523-230_523-225del
ENST00000588735.1:c.82+1745_82+1750del	ENSP00000466598.1:n.82+1745_82+1750del
ENST00000588957.5:c.-115+68_-115+73del	ENSP00000465565.1:n.-115+68_-115+73del
ENST00000590922.1:n.39_44del
ENST00000591327.1:n.571+68_571+73del
ENST00000592320.5:c.618+68_618+73del	ENSP00000465320.1:n.618+68_618+73del
NM_001131019.2:c.618+68_618+73del	NP_001124491.1:n.618+68_618+73del
NM_001242376.1:c.618+68_618+73del	NP_001229305.1:n.618+68_618+73del
NM_002055.4:c.618+68_618+73del	NP_002046.1:n.618+68_618+73del
NM_001363846.1:c.618+68_618+73del	NP_001350775.1:n.618+68_618+73del
XM_024450690.1:c.822+68_822+73del	XP_024306458.1:n.822+68_822+73del
XM_024450691.1:c.822+68_822+73del	XP_024306459.1:n.822+68_822+73del
XM_024450692.1:c.822+68_822+73del	XP_024306460.1:n.822+68_822+73del
XM_024450693.1:c.822+68_822+73del	XP_024306461.1:n.822+68_822+73del
NM_002055.5:c.618+68_618+73del MANE Select	NP_002046.1:n.618+68_618+73del
NM_001131019.3:c.618+68_618+73del	NP_001124491.1:n.618+68_618+73del
NM_001242376.2:c.618+68_618+73del	NP_001229305.1:n.618+68_618+73del
NM_001242376.3:c.618+68_618+73del	NP_001229305.1:n.618+68_618+73del
NM_001363846.2:c.618+68_618+73del	NP_001350775.1:n.618+68_618+73del