Canonical Allele Identifier: CA2733872082

Gene: GFAP

Linked Data

• dbSNP Id: rs2145637241

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913314del , CM000679.2:g.44913314del	GRCh38
NC_000017.10:g.42990682del , CM000679.1:g.42990682del	GRCh37
NC_000017.9:g.40346208del	NCBI36
NG_008401.1:g.7234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.736del	ENSP00000253408.5:p.Ala246ArgfsTer19
ENST00000435360.8:c.736del	ENSP00000403962.1:p.Ala246ArgfsTer19
ENST00000253408.10:c.736del	ENSP00000253408.5:p.Ala246ArgfsTer19
ENST00000435360.7:c.736del	ENSP00000403962.1:p.Ala246ArgfsTer19
ENST00000586127.6:n.1265del
ENST00000586793.6:c.736del	ENSP00000468500.2:p.Ala246ArgfsTer19
ENST00000587997.6:n.212del
ENST00000588735.3:c.736del MANE Select	ENSP00000466598.2:p.Ala246ArgfsTer19
ENST00000591327.2:n.1890del
ENST00000592320.6:c.618+415del	ENSP00000465320.1:n.618+415del
ENST00000638281.1:c.736del	ENSP00000491088.1:p.Ala246ArgfsTer19
ENST00000638618.1:c.391del	ENSP00000492832.1:p.Ala131ArgfsTer19
ENST00000639277.1:c.736del	ENSP00000492432.1:p.Ala246ArgfsTer19
ENST00000640552.1:n.750del
ENST00000253408.9:c.736del	ENSP00000253408.4:p.Ala246ArgfsTer19
ENST00000376990.8:c.*135del	ENSP00000366189.4:n.*135del
ENST00000435360.6:c.736del	ENSP00000403962.1:p.Ala246ArgfsTer19
ENST00000585728.5:c.*380del	ENSP00000465208.1:n.*380del
ENST00000586793.5:c.736del	ENSP00000468500.1:p.Ala246ArgfsTer19
ENST00000587997.5:c.212del
ENST00000588316.1:c.640del	ENSP00000465629.1:p.Ala214ArgfsTer19
ENST00000588735.1:c.82+2092del	ENSP00000466598.1:n.82+2092del
ENST00000588957.5:c.4del	ENSP00000465565.1:p.Ala2ArgfsTer19
ENST00000590922.1:n.386del
ENST00000592320.5:c.618+415del	ENSP00000465320.1:n.618+415del
NM_001131019.2:c.736del	NP_001124491.1:p.Ala246ArgfsTer19
NM_001242376.1:c.736del	NP_001229305.1:p.Ala246ArgfsTer19
NM_002055.4:c.736del	NP_002046.1:p.Ala246ArgfsTer19
NM_001363846.1:c.736del	NP_001350775.1:p.Ala246ArgfsTer19
XM_024450690.1:c.940del	XP_024306458.1:p.Ala314ArgfsTer19
XM_024450691.1:c.940del	XP_024306459.1:p.Ala314ArgfsTer19
XM_024450692.1:c.940del	XP_024306460.1:p.Ala314ArgfsTer19
XM_024450693.1:c.940del	XP_024306461.1:p.Ala314ArgfsTer19
NM_002055.5:c.736del MANE Select	NP_002046.1:p.Ala246ArgfsTer19
NM_001131019.3:c.736del	NP_001124491.1:p.Ala246ArgfsTer19
NM_001242376.2:c.736del	NP_001229305.1:p.Ala246ArgfsTer19
NM_001242376.3:c.736del	NP_001229305.1:p.Ala246ArgfsTer19
NM_001363846.2:c.736del	NP_001350775.1:p.Ala246ArgfsTer19