Canonical Allele Identifier: CA2638275323

Gene: GFAP

Linked Data

• gnomAD v4: 17-44912869-AGGCTCCCAAGTGAGATGTGCTAGAGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44912872_44912898del , CM000679.2:g.44912872_44912898del	GRCh38
NC_000017.10:g.42990240_42990266del , CM000679.1:g.42990240_42990266del	GRCh37
NC_000017.9:g.40345766_40345792del	NCBI36
NG_008401.1:g.7651_7677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.780+373_780+399del	ENSP00000253408.5:n.780+373_780+399del
ENST00000435360.8:c.780+373_780+399del	ENSP00000403962.1:n.780+373_780+399del
ENST00000253408.10:c.780+373_780+399del	ENSP00000253408.5:n.780+373_780+399del
ENST00000435360.7:c.780+373_780+399del	ENSP00000403962.1:n.780+373_780+399del
ENST00000586127.6:n.1309+373_1309+399del
ENST00000586793.6:c.780+373_780+399del	ENSP00000468500.2:n.780+373_780+399del
ENST00000587997.6:n.256+373_256+399del
ENST00000588735.3:c.780+373_780+399del MANE Select	ENSP00000466598.2:n.780+373_780+399del
ENST00000591327.2:n.1934+373_1934+399del
ENST00000592320.6:c.618+832_618+858del	ENSP00000465320.1:n.618+832_618+858del
ENST00000638281.1:c.780+373_780+399del	ENSP00000491088.1:n.780+373_780+399del
ENST00000638618.1:c.435+373_435+399del	ENSP00000492832.1:n.435+373_435+399del
ENST00000639277.1:c.780+373_780+399del	ENSP00000492432.1:n.780+373_780+399del
ENST00000640552.1:n.794+373_794+399del
ENST00000253408.9:c.780+373_780+399del	ENSP00000253408.4:n.780+373_780+399del
ENST00000376990.8:c.*179+373_*179+399del	ENSP00000366189.4:n.*179+373_*179+399del
ENST00000435360.6:c.780+373_780+399del	ENSP00000403962.1:n.780+373_780+399del
ENST00000586793.5:c.780+373_780+399del	ENSP00000468500.1:n.780+373_780+399del
ENST00000587997.5:c.256+373_256+399del
ENST00000588316.1:c.684+373_684+399del	ENSP00000465629.1:n.684+373_684+399del
ENST00000588640.5:n.39_65del
ENST00000588735.1:c.82+2509_82+2535del	ENSP00000466598.1:n.82+2509_82+2535del
ENST00000588957.5:c.48+373_48+399del	ENSP00000465565.1:n.48+373_48+399del
ENST00000590922.1:n.430+373_430+399del
ENST00000592320.5:c.618+832_618+858del	ENSP00000465320.1:n.618+832_618+858del
NM_001131019.2:c.780+373_780+399del	NP_001124491.1:n.780+373_780+399del
NM_001242376.1:c.780+373_780+399del	NP_001229305.1:n.780+373_780+399del
NM_002055.4:c.780+373_780+399del	NP_002046.1:n.780+373_780+399del
NM_001363846.1:c.780+373_780+399del	NP_001350775.1:n.780+373_780+399del
XM_024450690.1:c.984+373_984+399del	XP_024306458.1:n.984+373_984+399del
XM_024450691.1:c.984+373_984+399del	XP_024306459.1:n.984+373_984+399del
XM_024450692.1:c.984+373_984+399del	XP_024306460.1:n.984+373_984+399del
XM_024450693.1:c.984+373_984+399del	XP_024306461.1:n.984+373_984+399del
NM_002055.5:c.780+373_780+399del MANE Select	NP_002046.1:n.780+373_780+399del
NM_001131019.3:c.780+373_780+399del	NP_001124491.1:n.780+373_780+399del
NM_001242376.2:c.780+373_780+399del	NP_001229305.1:n.780+373_780+399del
NM_001242376.3:c.780+373_780+399del	NP_001229305.1:n.780+373_780+399del
NM_001363846.2:c.780+373_780+399del	NP_001350775.1:n.780+373_780+399del