Canonical Allele Identifier: CA2670526396

Gene: GABRA4

Linked Data

• gnomAD v4: 4-46993359-G-GCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993360_46993362dup , CM000666.2:g.46993360_46993362dup	GRCh38
NC_000004.11:g.46995377_46995379dup , CM000666.1:g.46995377_46995379dup	GRCh37
NC_000004.10:g.46690134_46690136dup	NCBI36
NG_011809.1:g.5202_5204dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.63_65dup MANE Select	ENSP00000264318.3:p.Arg22_Phe23insArg
ENST00000264318.3:c.63_65dup	ENSP00000264318.3:p.Arg22_Phe23insArg
ENST00000502874.1:c.63_65dup	ENSP00000424386.1:p.Arg22_Phe23insArg
ENST00000508560.5:c.18+45_18+47dup	ENSP00000425445.1:n.18+45_18+47dup
ENST00000509316.1:n.187_189dup
ENST00000511523.5:c.18+45_18+47dup	ENSP00000422152.1:n.18+45_18+47dup
NM_000809.3:c.63_65dup	NP_000800.2:p.Arg22_Phe23insArg
NM_001204266.1:c.29+45_29+47dup	NP_001191195.1:n.29+45_29+47dup
NM_001204267.1:c.29+45_29+47dup	NP_001191196.1:n.29+45_29+47dup
XM_011513677.1:c.63_65dup	XP_011511979.1:p.Arg22_Phe23insArg
NM_000809.4:c.63_65dup MANE Select	NP_000800.2:p.Arg22_Phe23insArg
NM_001204266.2:c.29+45_29+47dup	NP_001191195.1:n.29+45_29+47dup
NM_001204267.2:c.29+45_29+47dup	NP_001191196.1:n.29+45_29+47dup