Canonical Allele Identifier: CA2638275159

Gene: GFAP

Linked Data

• gnomAD v4: 17-44912789-ACCTCTCTGTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44912793_44912803del , CM000679.2:g.44912793_44912803del	GRCh38
NC_000017.10:g.42990161_42990171del , CM000679.1:g.42990161_42990171del	GRCh37
NC_000017.9:g.40345687_40345697del	NCBI36
NG_008401.1:g.7747_7757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.780+469_780+479del	ENSP00000253408.5:n.780+469_780+479del
ENST00000435360.8:c.780+469_780+479del	ENSP00000403962.1:n.780+469_780+479del
ENST00000253408.10:c.780+469_780+479del	ENSP00000253408.5:n.780+469_780+479del
ENST00000435360.7:c.780+469_780+479del	ENSP00000403962.1:n.780+469_780+479del
ENST00000586127.6:n.1309+469_1309+479del
ENST00000586793.6:c.780+469_780+479del	ENSP00000468500.2:n.780+469_780+479del
ENST00000587997.6:n.256+469_256+479del
ENST00000588735.3:c.780+469_780+479del MANE Select	ENSP00000466598.2:n.780+469_780+479del
ENST00000591327.2:n.1934+469_1934+479del
ENST00000592320.6:c.618+928_618+938del	ENSP00000465320.1:n.618+928_618+938del
ENST00000638281.1:c.780+469_780+479del	ENSP00000491088.1:n.780+469_780+479del
ENST00000638618.1:c.435+469_435+479del	ENSP00000492832.1:n.435+469_435+479del
ENST00000639277.1:c.780+469_780+479del	ENSP00000492432.1:n.780+469_780+479del
ENST00000640552.1:n.794+469_794+479del
ENST00000253408.9:c.780+469_780+479del	ENSP00000253408.4:n.780+469_780+479del
ENST00000376990.8:c.*179+469_*179+479del	ENSP00000366189.4:n.*179+469_*179+479del
ENST00000435360.6:c.780+469_780+479del	ENSP00000403962.1:n.780+469_780+479del
ENST00000586793.5:c.780+469_780+479del	ENSP00000468500.1:n.780+469_780+479del
ENST00000587997.5:c.256+469_256+479del
ENST00000588316.1:c.684+469_684+479del	ENSP00000465629.1:n.684+469_684+479del
ENST00000588640.5:n.135_145del
ENST00000588735.1:c.82+2605_82+2615del	ENSP00000466598.1:n.82+2605_82+2615del
ENST00000588957.5:c.48+469_48+479del	ENSP00000465565.1:n.48+469_48+479del
ENST00000590922.1:n.430+469_430+479del
ENST00000592320.5:c.618+928_618+938del	ENSP00000465320.1:n.618+928_618+938del
NM_001131019.2:c.780+469_780+479del	NP_001124491.1:n.780+469_780+479del
NM_001242376.1:c.780+469_780+479del	NP_001229305.1:n.780+469_780+479del
NM_002055.4:c.780+469_780+479del	NP_002046.1:n.780+469_780+479del
NM_001363846.1:c.780+469_780+479del	NP_001350775.1:n.780+469_780+479del
XM_024450690.1:c.984+469_984+479del	XP_024306458.1:n.984+469_984+479del
XM_024450691.1:c.984+469_984+479del	XP_024306459.1:n.984+469_984+479del
XM_024450692.1:c.984+469_984+479del	XP_024306460.1:n.984+469_984+479del
XM_024450693.1:c.984+469_984+479del	XP_024306461.1:n.984+469_984+479del
NM_002055.5:c.780+469_780+479del MANE Select	NP_002046.1:n.780+469_780+479del
NM_001131019.3:c.780+469_780+479del	NP_001124491.1:n.780+469_780+479del
NM_001242376.2:c.780+469_780+479del	NP_001229305.1:n.780+469_780+479del
NM_001242376.3:c.780+469_780+479del	NP_001229305.1:n.780+469_780+479del
NM_001363846.2:c.780+469_780+479del	NP_001350775.1:n.780+469_780+479del