Canonical Allele Identifier: CA626157908

Gene: GFAP

Linked Data

• dbSNP Id: rs1262413849
• gnomAD v2: 17-42990991-CCTCT-C
• gnomAD v3: 17-44913623-CCTCT-C
• gnomAD v4: 17-44913623-CCTCT-C
• MyVariant Identifiers: chr17:g.42990992_42990995del (hg19) ; chr17:g.44913624_44913627del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913628_44913631del , CM000679.2:g.44913628_44913631del	GRCh38
NC_000017.10:g.42990996_42990999del , CM000679.1:g.42990996_42990999del	GRCh37
NC_000017.9:g.40346522_40346525del	NCBI36
NG_008401.1:g.6920_6923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.618+101_618+104del	ENSP00000253408.5:n.618+101_618+104del
ENST00000435360.8:c.618+101_618+104del	ENSP00000403962.1:n.618+101_618+104del
ENST00000253408.10:c.618+101_618+104del	ENSP00000253408.5:n.618+101_618+104del
ENST00000435360.7:c.618+101_618+104del	ENSP00000403962.1:n.618+101_618+104del
ENST00000586127.6:n.1147+101_1147+104del
ENST00000586793.6:c.618+101_618+104del	ENSP00000468500.2:n.618+101_618+104del
ENST00000587997.6:n.70_73del
ENST00000588735.3:c.618+101_618+104del MANE Select	ENSP00000466598.2:n.618+101_618+104del
ENST00000591327.2:n.1772+101_1772+104del
ENST00000592320.6:c.618+101_618+104del	ENSP00000465320.1:n.618+101_618+104del
ENST00000638281.1:c.618+101_618+104del	ENSP00000491088.1:n.618+101_618+104del
ENST00000638618.1:c.273+101_273+104del	ENSP00000492832.1:n.273+101_273+104del
ENST00000639277.1:c.618+101_618+104del	ENSP00000492432.1:n.618+101_618+104del
ENST00000640552.1:n.632+101_632+104del
ENST00000253408.9:c.618+101_618+104del	ENSP00000253408.4:n.618+101_618+104del
ENST00000376990.8:c.*17+101_*17+104del	ENSP00000366189.4:n.*17+101_*17+104del
ENST00000435360.6:c.618+101_618+104del	ENSP00000403962.1:n.618+101_618+104del
ENST00000585728.5:c.*262+101_*262+104del	ENSP00000465208.1:n.*262+101_*262+104del
ENST00000586127.5:c.-44+101_-44+104del	ENSP00000464795.1:n.-44+101_-44+104del
ENST00000586793.5:c.618+101_618+104del	ENSP00000468500.1:n.618+101_618+104del
ENST00000587997.5:c.70_73del
ENST00000588316.1:c.523-197_523-194del	ENSP00000465629.1:n.523-197_523-194del
ENST00000588735.1:c.82+1778_82+1781del	ENSP00000466598.1:n.82+1778_82+1781del
ENST00000588957.5:c.-115+101_-115+104del	ENSP00000465565.1:n.-115+101_-115+104del
ENST00000590922.1:n.72_75del
ENST00000591327.1:n.571+101_571+104del
ENST00000592320.5:c.618+101_618+104del	ENSP00000465320.1:n.618+101_618+104del
NM_001131019.2:c.618+101_618+104del	NP_001124491.1:n.618+101_618+104del
NM_001242376.1:c.618+101_618+104del	NP_001229305.1:n.618+101_618+104del
NM_002055.4:c.618+101_618+104del	NP_002046.1:n.618+101_618+104del
NM_001363846.1:c.618+101_618+104del	NP_001350775.1:n.618+101_618+104del
XM_024450690.1:c.822+101_822+104del	XP_024306458.1:n.822+101_822+104del
XM_024450691.1:c.822+101_822+104del	XP_024306459.1:n.822+101_822+104del
XM_024450692.1:c.822+101_822+104del	XP_024306460.1:n.822+101_822+104del
XM_024450693.1:c.822+101_822+104del	XP_024306461.1:n.822+101_822+104del
NM_002055.5:c.618+101_618+104del MANE Select	NP_002046.1:n.618+101_618+104del
NM_001131019.3:c.618+101_618+104del	NP_001124491.1:n.618+101_618+104del
NM_001242376.2:c.618+101_618+104del	NP_001229305.1:n.618+101_618+104del
NM_001242376.3:c.618+101_618+104del	NP_001229305.1:n.618+101_618+104del
NM_001363846.2:c.618+101_618+104del	NP_001350775.1:n.618+101_618+104del