Canonical Allele Identifier: CA551159483

Gene: GABRA4

Linked Data

• dbSNP Id: rs1345738697
• gnomAD v2: 4-46995174-CTG-C
• gnomAD v3: 4-46993157-CTG-C
• gnomAD v4: 4-46993157-CTG-C
• MyVariant Identifiers: chr4:g.46995175_46995176del (hg19) ; chr4:g.46993158_46993159del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993158_46993159del , CM000666.2:g.46993158_46993159del	GRCh38
NC_000004.11:g.46995175_46995176del , CM000666.1:g.46995175_46995176del	GRCh37
NC_000004.10:g.46689932_46689933del	NCBI36
NG_011809.1:g.5405_5406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.86+180_86+181del MANE Select	ENSP00000264318.3:n.86+180_86+181del
ENST00000264318.3:c.86+180_86+181del	ENSP00000264318.3:n.86+180_86+181del
ENST00000502874.1:c.86+180_86+181del	ENSP00000424386.1:n.86+180_86+181del
ENST00000508560.5:c.19-213_19-212del	ENSP00000425445.1:n.19-213_19-212del
ENST00000509316.1:n.210+180_210+181del
ENST00000511523.5:c.19-213_19-212del	ENSP00000422152.1:n.19-213_19-212del
NM_000809.3:c.86+180_86+181del	NP_000800.2:n.86+180_86+181del
NM_001204266.1:c.30-213_30-212del	NP_001191195.1:n.30-213_30-212del
NM_001204267.1:c.30-213_30-212del	NP_001191196.1:n.30-213_30-212del
XM_011513677.1:c.86+180_86+181del	XP_011511979.1:n.86+180_86+181del
NM_000809.4:c.86+180_86+181del MANE Select	NP_000800.2:n.86+180_86+181del
NM_001204266.2:c.30-213_30-212del	NP_001191195.1:n.30-213_30-212del
NM_001204267.2:c.30-213_30-212del	NP_001191196.1:n.30-213_30-212del