Canonical Allele Identifier: CA2580073916

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 2074935
• ClinVar RCV Id: RCV002982351

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822863_151822886del , CM000667.2:g.151822863_151822886del	GRCh38
NC_000005.9:g.151202424_151202447del , CM000667.1:g.151202424_151202447del	GRCh37
NC_000005.8:g.151182617_151182640del	NCBI36
NG_011764.1:g.106953_106976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1139_1162del MANE Select	ENSP00000274576.5:p.Ile380_Asn387del
ENST00000274576.8:c.1139_1162del	ENSP00000274576.4:p.Ile380_Asn387del
ENST00000455880.2:c.1163_1186del	ENSP00000411593.2:p.Ile388_Asn395del
ENST00000462581.6:c.*897_*920del	ENSP00000430595.1:n.*897_*920del
NM_000171.3:c.1139_1162del	NP_000162.2:p.Ile380_Asn387del
NM_001146040.1:c.1163_1186del	NP_001139512.1:p.Ile388_Asn395del
NM_001292000.1:c.890_913del	NP_001278929.1:p.Ile297_Asn304del
NM_000171.4:c.1139_1162del MANE Select	NP_000162.2:p.Ile380_Asn387del
NM_001146040.2:c.1163_1186del	NP_001139512.1:p.Ile388_Asn395del
NM_001292000.2:c.890_913del	NP_001278929.1:p.Ile297_Asn304del