Canonical Allele Identifier: CA2670526331

Gene: GABRA4

Linked Data

• gnomAD v4: 4-46993217-C-CTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993219_46993221dup , CM000666.2:g.46993219_46993221dup	GRCh38
NC_000004.11:g.46995236_46995238dup , CM000666.1:g.46995236_46995238dup	GRCh37
NC_000004.10:g.46689993_46689995dup	NCBI36
NG_011809.1:g.5344_5346dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.86+119_86+121dup MANE Select	ENSP00000264318.3:n.86+119_86+121dup
ENST00000264318.3:c.86+119_86+121dup	ENSP00000264318.3:n.86+119_86+121dup
ENST00000502874.1:c.86+119_86+121dup	ENSP00000424386.1:n.86+119_86+121dup
ENST00000508560.5:c.18+187_18+189dup	ENSP00000425445.1:n.18+187_18+189dup
ENST00000509316.1:n.210+119_210+121dup
ENST00000511523.5:c.18+187_18+189dup	ENSP00000422152.1:n.18+187_18+189dup
NM_000809.3:c.86+119_86+121dup	NP_000800.2:n.86+119_86+121dup
NM_001204266.1:c.29+187_29+189dup	NP_001191195.1:n.29+187_29+189dup
NM_001204267.1:c.29+187_29+189dup	NP_001191196.1:n.29+187_29+189dup
XM_011513677.1:c.86+119_86+121dup	XP_011511979.1:n.86+119_86+121dup
NM_000809.4:c.86+119_86+121dup MANE Select	NP_000800.2:n.86+119_86+121dup
NM_001204266.2:c.29+187_29+189dup	NP_001191195.1:n.29+187_29+189dup
NM_001204267.2:c.29+187_29+189dup	NP_001191196.1:n.29+187_29+189dup