Canonical Allele Identifier: CA805721755

Gene: GLRA1

Linked Data

• dbSNP Id: rs1369155058
• gnomAD v3: 5-151822698-C-CGTAG
• gnomAD v4: 5-151822698-C-CGTAG
• MyVariant Identifiers: chr5:g.151202259_151202260insGTAG (hg19) ; chr5:g.151822698_151822699insGTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822699_151822700insTAGG , CM000667.2:g.151822699_151822700insTAGG	GRCh38
NC_000005.9:g.151202260_151202261insTAGG , CM000667.1:g.151202260_151202261insTAGG	GRCh37
NC_000005.8:g.151182453_151182454insTAGG	NCBI36
NG_011764.1:g.107138_107139insCTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1324_1325insCTAC MANE Select	ENSP00000274576.5:p.Arg442ProfsTer3
ENST00000274576.8:c.1324_1325insCTAC	ENSP00000274576.4:p.Arg442ProfsTer3
ENST00000455880.2:c.1348_1349insCTAC	ENSP00000411593.2:p.Arg450ProfsTer3
ENST00000462581.6:c.*1082_*1083insCTAC	ENSP00000430595.1:n.*1082_*1083insCTAC
NM_000171.3:c.1324_1325insCTAC	NP_000162.2:p.Arg442ProfsTer3
NM_001146040.1:c.1348_1349insCTAC	NP_001139512.1:p.Arg450ProfsTer3
NM_001292000.1:c.1075_1076insCTAC	NP_001278929.1:p.Arg359ProfsTer3
NM_000171.4:c.1324_1325insCTAC MANE Select	NP_000162.2:p.Arg442ProfsTer3
NM_001146040.2:c.1348_1349insCTAC	NP_001139512.1:p.Arg450ProfsTer3
NM_001292000.2:c.1075_1076insCTAC	NP_001278929.1:p.Arg359ProfsTer3