Canonical Allele Identifier: CA2538633234

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907896_44907897insCTGTGGGTACAGAGAGGTCAAGCCCAGGAGGACTGCCCCGT , CM000679.2:g.44907896_44907897insCTGTGGGTACAGAGAGGTCAAGCCCAGGAGGACTGCCCCGT	GRCh38
NC_000017.10:g.42985264_42985265insCTGTGGGTACAGAGAGGTCAAGCCCAGGAGGACTGCCCCGT , CM000679.1:g.42985264_42985265insCTGTGGGTACAGAGAGGTCAAGCCCAGGAGGACTGCCCCGT	GRCh37
NC_000017.9:g.40340790_40340791insCTGTGGGTACAGAGAGGTCAAGCCCAGGAGGACTGCCCCGT	NCBI36
NG_008401.1:g.12650_12651insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+167_1377+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	ENSP00000253408.5:n.1377+167_1377+168insACGGGGCAGTCCTCCTGGGCT...
ENST00000253408.10:c.1377+167_1377+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	ENSP00000253408.5:n.1377+167_1377+168insACGGGGCAGTCCTCCTGGGCT...
ENST00000441312.2:n.110+167_110+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000585543.6:n.410+167_410+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000586125.2:c.359_360insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	ENSP00000467397.2:p.Ser121ArgfsTer22
ENST00000588735.3:c.1257+167_1257+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG MANE Select	ENSP00000466598.2:n.1257+167_1257+168insACGGGGCAGTCCTCCTGGGCT...
ENST00000589701.2:n.2164+167_2164+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000591880.2:c.523_524insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000592065.2:n.625+167_625+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000638304.1:c.176+167_176+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000638400.1:c.92+167_92+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000638488.1:n.721+167_721+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000638618.1:c.912+167_912+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	ENSP00000492832.1:n.912+167_912+168insACGGGGCAGTCCTCCTGGGCTTG...
ENST00000638921.1:n.351_352insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000639042.1:c.229+167_229+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000639243.1:c.13+167_13+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000639277.1:c.1257+167_1257+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	ENSP00000492432.1:n.1257+167_1257+168insACGGGGCAGTCCTCCTGGGCT...
ENST00000639369.1:c.107+167_107+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000640545.1:c.63+167_63+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	ENSP00000491735.1:n.63+167_63+168insACGGGGCAGTCCTCCTGGGCTTGAC...
ENST00000640859.1:c.71+167_71+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000253408.9:c.1257+167_1257+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	ENSP00000253408.4:n.1257+167_1257+168insACGGGGCAGTCCTCCTGGGCT...
ENST00000585543.5:n.410+167_410+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000588735.1:c.135+167_135+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	ENSP00000466598.1:n.135+167_135+168insACGGGGCAGTCCTCCTGGGCTTG...
ENST00000589701.1:n.159+167_159+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000591880.1:c.290_291insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	ENSP00000467530.1:p.Ser98ArgfsTer22
ENST00000592065.1:n.51+167_51+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
ENST00000592706.5:n.129+167_129+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG
NM_002055.4:c.1257+167_1257+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	NP_002046.1:n.1257+167_1257+168insACGGGGCAGTCCTCCTGGGCTTGACCT...
NM_001363846.1:c.1377+167_1377+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	NP_001350775.1:n.1377+167_1377+168insACGGGGCAGTCCTCCTGGGCTTGA...
XM_024450690.1:c.1581+167_1581+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	XP_024306458.1:n.1581+167_1581+168insACGGGGCAGTCCTCCTGGGCTTGA...
XM_024450692.1:c.1461+167_1461+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	XP_024306460.1:n.1461+167_1461+168insACGGGGCAGTCCTCCTGGGCTTGA...
NM_002055.5:c.1257+167_1257+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG MANE Select	NP_002046.1:n.1257+167_1257+168insACGGGGCAGTCCTCCTGGGCTTGACCT...
NM_001363846.2:c.1377+167_1377+168insACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAG	NP_001350775.1:n.1377+167_1377+168insACGGGGCAGTCCTCCTGGGCTTGA...