Canonical Allele Identifier: CA2261611660

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911298_44911327delinsGACATTGAGCAGGTCCTGGTACTCCTGCAA , CM000679.2:g.44911298_44911327delinsGACATTGAGCAGGTCCTGGTACTCCTGCAA	GRCh38
NC_000017.10:g.42988666_42988695delinsGACATTGAGCAGGTCCTGGTACTCCTGCAA , CM000679.1:g.42988666_42988695delinsGACATTGAGCAGGTCCTGGTACTCCTGCAA	GRCh37
NC_000017.9:g.40344192_40344221delinsGACATTGAGCAGGTCCTGGTACTCCTGCAA	NCBI36
NG_008401.1:g.9220_9249delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000253408.5:p.Leu346=
ENST00000435360.8:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000403962.1:p.Leu346=
ENST00000253408.10:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000253408.5:p.Leu346=
ENST00000435360.7:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000403962.1:p.Leu346=
ENST00000585543.6:n.189_218delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
ENST00000586127.6:n.1565_1594delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
ENST00000586793.6:c.907-6_930delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
ENST00000587997.6:n.512_541delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
ENST00000588735.3:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC MANE Select	ENSP00000466598.2:p.Leu346=
ENST00000591327.2:n.2190_2219delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
ENST00000592320.6:c.619-6_642delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
ENST00000638281.1:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000491088.1:p.Leu346=
ENST00000638618.1:c.691_720delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000492832.1:p.Leu231=
ENST00000639277.1:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000492432.1:p.Leu346=
ENST00000640552.1:n.1050_1079delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
ENST00000253408.9:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000253408.4:p.Leu346=
ENST00000435360.6:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000403962.1:p.Leu346=
ENST00000585543.5:n.189_218delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
ENST00000586793.5:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000468500.1:p.Leu346=
ENST00000587997.5:c.512_541delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
ENST00000588640.5:n.416_445delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
ENST00000588735.1:c.83-3211_83-3182delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	ENSP00000466598.1:n.83-3211_83-3182delinsTTGCAGGAGTACCAGGACCT...
ENST00000592320.5:c.619-6_642delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC
NM_001131019.2:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	NP_001124491.1:p.Leu346=
NM_001242376.1:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	NP_001229305.1:p.Leu346=
NM_002055.4:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	NP_002046.1:p.Leu346=
NM_001363846.1:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	NP_001350775.1:p.Leu346=
XM_024450690.1:c.1240_1269delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	XP_024306458.1:p.Leu414=
XM_024450691.1:c.1240_1269delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	XP_024306459.1:p.Leu414=
XM_024450692.1:c.1240_1269delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	XP_024306460.1:p.Leu414=
XM_024450693.1:c.1240_1269delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	XP_024306461.1:p.Leu414=
NM_002055.5:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC MANE Select	NP_002046.1:p.Leu346=
NM_001131019.3:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	NP_001124491.1:p.Leu346=
NM_001242376.2:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	NP_001229305.1:p.Leu346=
NM_001242376.3:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	NP_001229305.1:p.Leu346=
NM_001363846.2:c.1036_1065delinsTTGCAGGAGTACCAGGACCTGCTCAATGTC	NP_001350775.1:p.Leu346=