Canonical Allele Identifier: CA772328898

Gene: GFAP

Linked Data

• dbSNP Id: rs1182560354
• gnomAD v4: 17-44907813-GAGAA-G
• MyVariant Identifiers: chr17:g.42985182_42985185del (hg19) ; chr17:g.44907814_44907817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907817_44907820del , CM000679.2:g.44907817_44907820del	GRCh38
NC_000017.10:g.42985185_42985188del , CM000679.1:g.42985185_42985188del	GRCh37
NC_000017.9:g.40340711_40340714del	NCBI36
NG_008401.1:g.12730_12733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+247_1377+250del	ENSP00000253408.5:n.1377+247_1377+250del
ENST00000253408.10:c.1377+247_1377+250del	ENSP00000253408.5:n.1377+247_1377+250del
ENST00000441312.2:n.110+247_110+250del
ENST00000585543.6:n.410+247_410+250del
ENST00000586125.2:c.439_442del	ENSP00000467397.2:n.439_442del
ENST00000588735.3:c.1257+247_1257+250del MANE Select	ENSP00000466598.2:n.1257+247_1257+250del
ENST00000589701.2:n.2164+247_2164+250del
ENST00000591880.2:c.603_606del
ENST00000592065.2:n.625+247_625+250del
ENST00000638304.1:c.176+247_176+250del
ENST00000638400.1:c.92+247_92+250del
ENST00000638488.1:n.721+247_721+250del
ENST00000638618.1:c.912+247_912+250del	ENSP00000492832.1:n.912+247_912+250del
ENST00000638921.1:n.431_434del
ENST00000639042.1:c.229+247_229+250del
ENST00000639243.1:c.13+247_13+250del
ENST00000639277.1:c.1257+247_1257+250del	ENSP00000492432.1:n.1257+247_1257+250del
ENST00000639369.1:c.107+247_107+250del
ENST00000640545.1:c.63+247_63+250del	ENSP00000491735.1:n.63+247_63+250del
ENST00000640859.1:c.71+247_71+250del
ENST00000253408.9:c.1257+247_1257+250del	ENSP00000253408.4:n.1257+247_1257+250del
ENST00000585543.5:n.410+247_410+250del
ENST00000588735.1:c.135+247_135+250del	ENSP00000466598.1:n.135+247_135+250del
ENST00000589701.1:n.159+247_159+250del
ENST00000591880.1:c.370_373del	ENSP00000467530.1:n.370_373del
ENST00000592065.1:n.51+247_51+250del
ENST00000592706.5:n.129+247_129+250del
NM_002055.4:c.1257+247_1257+250del	NP_002046.1:n.1257+247_1257+250del
NM_001363846.1:c.1377+247_1377+250del	NP_001350775.1:n.1377+247_1377+250del
XM_024450690.1:c.1581+247_1581+250del	XP_024306458.1:n.1581+247_1581+250del
XM_024450692.1:c.1461+247_1461+250del	XP_024306460.1:n.1461+247_1461+250del
NM_002055.5:c.1257+247_1257+250del MANE Select	NP_002046.1:n.1257+247_1257+250del
NM_001363846.2:c.1377+247_1377+250del	NP_001350775.1:n.1377+247_1377+250del