Canonical Allele Identifier: CA2739290988

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913360_44913371del , CM000679.2:g.44913360_44913371del	GRCh38
NC_000017.10:g.42990728_42990739del , CM000679.1:g.42990728_42990739del	GRCh37
NC_000017.9:g.40346254_40346265del	NCBI36
NG_008401.1:g.7176_7187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.678_689del	ENSP00000253408.5:p.Ala227_Asp230del
ENST00000435360.8:c.678_689del	ENSP00000403962.1:p.Ala227_Asp230del
ENST00000253408.10:c.678_689del	ENSP00000253408.5:p.Ala227_Asp230del
ENST00000435360.7:c.678_689del	ENSP00000403962.1:p.Ala227_Asp230del
ENST00000586127.6:n.1207_1218del
ENST00000586793.6:c.678_689del	ENSP00000468500.2:p.Ala227_Asp230del
ENST00000587997.6:n.154_165del
ENST00000588735.3:c.678_689del MANE Select	ENSP00000466598.2:p.Ala227_Asp230del
ENST00000591327.2:n.1832_1843del
ENST00000592320.6:c.618+357_618+368del	ENSP00000465320.1:n.618+357_618+368del
ENST00000638281.1:c.678_689del	ENSP00000491088.1:p.Ala227_Asp230del
ENST00000638618.1:c.333_344del	ENSP00000492832.1:p.Ala112_Asp115del
ENST00000639277.1:c.678_689del	ENSP00000492432.1:p.Ala227_Asp230del
ENST00000640552.1:n.692_703del
ENST00000253408.9:c.678_689del	ENSP00000253408.4:p.Ala227_Asp230del
ENST00000376990.8:c.*77_*88del	ENSP00000366189.4:n.*77_*88del
ENST00000435360.6:c.678_689del	ENSP00000403962.1:p.Ala227_Asp230del
ENST00000585728.5:c.*322_*333del	ENSP00000465208.1:n.*322_*333del
ENST00000586127.5:c.17_28del	ENSP00000464795.1:p.Trp6_Thr10delinsSer
ENST00000586793.5:c.678_689del	ENSP00000468500.1:p.Ala227_Asp230del
ENST00000587997.5:c.154_165del
ENST00000588316.1:c.582_593del	ENSP00000465629.1:p.Ala195_Asp198del
ENST00000588735.1:c.82+2034_82+2045del	ENSP00000466598.1:n.82+2034_82+2045del
ENST00000588957.5:c.-55_-44del	ENSP00000465565.1:n.-55_-44del
ENST00000590922.1:n.328_339del
ENST00000592320.5:c.618+357_618+368del	ENSP00000465320.1:n.618+357_618+368del
NM_001131019.2:c.678_689del	NP_001124491.1:p.Ala227_Asp230del
NM_001242376.1:c.678_689del	NP_001229305.1:p.Ala227_Asp230del
NM_002055.4:c.678_689del	NP_002046.1:p.Ala227_Asp230del
NM_001363846.1:c.678_689del	NP_001350775.1:p.Ala227_Asp230del
XM_024450690.1:c.882_893del	XP_024306458.1:p.Ala295_Asp298del
XM_024450691.1:c.882_893del	XP_024306459.1:p.Ala295_Asp298del
XM_024450692.1:c.882_893del	XP_024306460.1:p.Ala295_Asp298del
XM_024450693.1:c.882_893del	XP_024306461.1:p.Ala295_Asp298del
NM_002055.5:c.678_689del MANE Select	NP_002046.1:p.Ala227_Asp230del
NM_001131019.3:c.678_689del	NP_001124491.1:p.Ala227_Asp230del
NM_001242376.2:c.678_689del	NP_001229305.1:p.Ala227_Asp230del
NM_001242376.3:c.678_689del	NP_001229305.1:p.Ala227_Asp230del
NM_001363846.2:c.678_689del	NP_001350775.1:p.Ala227_Asp230del