Canonical Allele Identifier: CA626155927

Gene: GFAP

Linked Data

• dbSNP Id: rs1284213333
• gnomAD v2: 17-42985196-TGTATTA-T
• gnomAD v3: 17-44907828-TGTATTA-T
• gnomAD v4: 17-44907828-TGTATTA-T
• MyVariant Identifiers: chr17:g.42985197_42985202del (hg19) ; chr17:g.44907829_44907834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907830_44907835del , CM000679.2:g.44907830_44907835del	GRCh38
NC_000017.10:g.42985198_42985203del , CM000679.1:g.42985198_42985203del	GRCh37
NC_000017.9:g.40340724_40340729del	NCBI36
NG_008401.1:g.12713_12718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+230_1377+235del	ENSP00000253408.5:n.1377+230_1377+235del
ENST00000253408.10:c.1377+230_1377+235del	ENSP00000253408.5:n.1377+230_1377+235del
ENST00000441312.2:n.110+230_110+235del
ENST00000585543.6:n.410+230_410+235del
ENST00000586125.2:c.422_427del	ENSP00000467397.2:n.422_427del
ENST00000588735.3:c.1257+230_1257+235del MANE Select	ENSP00000466598.2:n.1257+230_1257+235del
ENST00000589701.2:n.2164+230_2164+235del
ENST00000591880.2:c.586_591del
ENST00000592065.2:n.625+230_625+235del
ENST00000638304.1:c.176+230_176+235del
ENST00000638400.1:c.92+230_92+235del
ENST00000638488.1:n.721+230_721+235del
ENST00000638618.1:c.912+230_912+235del	ENSP00000492832.1:n.912+230_912+235del
ENST00000638921.1:n.414_419del
ENST00000639042.1:c.229+230_229+235del
ENST00000639243.1:c.13+230_13+235del
ENST00000639277.1:c.1257+230_1257+235del	ENSP00000492432.1:n.1257+230_1257+235del
ENST00000639369.1:c.107+230_107+235del
ENST00000640545.1:c.63+230_63+235del	ENSP00000491735.1:n.63+230_63+235del
ENST00000640859.1:c.71+230_71+235del
ENST00000253408.9:c.1257+230_1257+235del	ENSP00000253408.4:n.1257+230_1257+235del
ENST00000585543.5:n.410+230_410+235del
ENST00000588735.1:c.135+230_135+235del	ENSP00000466598.1:n.135+230_135+235del
ENST00000589701.1:n.159+230_159+235del
ENST00000591880.1:c.353_358del	ENSP00000467530.1:n.353_358del
ENST00000592065.1:n.51+230_51+235del
ENST00000592706.5:n.129+230_129+235del
NM_002055.4:c.1257+230_1257+235del	NP_002046.1:n.1257+230_1257+235del
NM_001363846.1:c.1377+230_1377+235del	NP_001350775.1:n.1377+230_1377+235del
XM_024450690.1:c.1581+230_1581+235del	XP_024306458.1:n.1581+230_1581+235del
XM_024450692.1:c.1461+230_1461+235del	XP_024306460.1:n.1461+230_1461+235del
NM_002055.5:c.1257+230_1257+235del MANE Select	NP_002046.1:n.1257+230_1257+235del
NM_001363846.2:c.1377+230_1377+235del	NP_001350775.1:n.1377+230_1377+235del