Canonical Allele Identifier: CA551159496

Gene: GABRA4

Linked Data

• dbSNP Id: rs1560488012
• gnomAD v2: 4-46995397-CCCG-C
• gnomAD v4: 4-46993380-CCCG-C
• MyVariant Identifiers: chr4:g.46995398_46995400del (hg19) ; chr4:g.46993381_46993383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993381_46993383del , CM000666.2:g.46993381_46993383del	GRCh38
NC_000004.11:g.46995398_46995400del , CM000666.1:g.46995398_46995400del	GRCh37
NC_000004.10:g.46690155_46690157del	NCBI36
NG_011809.1:g.5181_5183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.42_44del MANE Select	ENSP00000264318.3:p.Gly15del
ENST00000264318.3:c.42_44del	ENSP00000264318.3:p.Gly15del
ENST00000502874.1:c.42_44del	ENSP00000424386.1:p.Gly15del
ENST00000508560.5:c.18+24_18+26del	ENSP00000425445.1:n.18+24_18+26del
ENST00000509316.1:n.166_168del
ENST00000511523.5:c.18+24_18+26del	ENSP00000422152.1:n.18+24_18+26del
NM_000809.3:c.42_44del	NP_000800.2:p.Gly15del
NM_001204266.1:c.29+24_29+26del	NP_001191195.1:n.29+24_29+26del
NM_001204267.1:c.29+24_29+26del	NP_001191196.1:n.29+24_29+26del
XM_011513677.1:c.42_44del	XP_011511979.1:p.Gly15del
NM_000809.4:c.42_44del MANE Select	NP_000800.2:p.Gly15del
NM_001204266.2:c.29+24_29+26del	NP_001191195.1:n.29+24_29+26del
NM_001204267.2:c.29+24_29+26del	NP_001191196.1:n.29+24_29+26del