Canonical Allele Identifier: CA984040267

Gene: GFAP

Linked Data

• gnomAD v3: 17-44907815-G-GAA
• gnomAD v4: 17-44907815-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907817_44907818dup , CM000679.2:g.44907817_44907818dup	GRCh38
NC_000017.10:g.42985185_42985186dup , CM000679.1:g.42985185_42985186dup	GRCh37
NC_000017.9:g.40340711_40340712dup	NCBI36
NG_008401.1:g.12730_12731dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+247_1377+248dup	ENSP00000253408.5:n.1377+247_1377+248dup
ENST00000253408.10:c.1377+247_1377+248dup	ENSP00000253408.5:n.1377+247_1377+248dup
ENST00000441312.2:n.110+247_110+248dup
ENST00000585543.6:n.410+247_410+248dup
ENST00000586125.2:c.439_440dup	ENSP00000467397.2:n.439_440dup
ENST00000588735.3:c.1257+247_1257+248dup MANE Select	ENSP00000466598.2:n.1257+247_1257+248dup
ENST00000589701.2:n.2164+247_2164+248dup
ENST00000591880.2:c.603_604dup
ENST00000592065.2:n.625+247_625+248dup
ENST00000638304.1:c.176+247_176+248dup
ENST00000638400.1:c.92+247_92+248dup
ENST00000638488.1:n.721+247_721+248dup
ENST00000638618.1:c.912+247_912+248dup	ENSP00000492832.1:n.912+247_912+248dup
ENST00000638921.1:n.431_432dup
ENST00000639042.1:c.229+247_229+248dup
ENST00000639243.1:c.13+247_13+248dup
ENST00000639277.1:c.1257+247_1257+248dup	ENSP00000492432.1:n.1257+247_1257+248dup
ENST00000639369.1:c.107+247_107+248dup
ENST00000640545.1:c.63+247_63+248dup	ENSP00000491735.1:n.63+247_63+248dup
ENST00000640859.1:c.71+247_71+248dup
ENST00000253408.9:c.1257+247_1257+248dup	ENSP00000253408.4:n.1257+247_1257+248dup
ENST00000585543.5:n.410+247_410+248dup
ENST00000588735.1:c.135+247_135+248dup	ENSP00000466598.1:n.135+247_135+248dup
ENST00000589701.1:n.159+247_159+248dup
ENST00000591880.1:c.370_371dup	ENSP00000467530.1:n.370_371dup
ENST00000592065.1:n.51+247_51+248dup
ENST00000592706.5:n.129+247_129+248dup
NM_002055.4:c.1257+247_1257+248dup	NP_002046.1:n.1257+247_1257+248dup
NM_001363846.1:c.1377+247_1377+248dup	NP_001350775.1:n.1377+247_1377+248dup
XM_024450690.1:c.1581+247_1581+248dup	XP_024306458.1:n.1581+247_1581+248dup
XM_024450692.1:c.1461+247_1461+248dup	XP_024306460.1:n.1461+247_1461+248dup
NM_002055.5:c.1257+247_1257+248dup MANE Select	NP_002046.1:n.1257+247_1257+248dup
NM_001363846.2:c.1377+247_1377+248dup	NP_001350775.1:n.1377+247_1377+248dup