Canonical Allele Identifier: CA1139658893
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 969774
ClinVar RCV Id: RCV001245198
dbSNP Id: rs1752914673

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851606del , CM000667.2:g.151851606del GRCh38
NC_000005.9:g.151231167del , CM000667.1:g.151231167del GRCh37
NC_000005.8:g.151211360del NCBI36
NG_011764.1:g.78231del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.698-2del MANE Select ENSP00000274576.5:n.698-2del
ENST00000274576.8:c.698-2del ENSP00000274576.4:n.698-2del
ENST00000455880.2:c.698-2del ENSP00000411593.2:n.698-2del
ENST00000462581.6:c.*456-2del ENSP00000430595.1:n.*456-2del
ENST00000471351.2:n.981-2del
NM_000171.3:c.698-2del NP_000162.2:n.698-2del
NM_001146040.1:c.698-2del NP_001139512.1:n.698-2del
NM_001292000.1:c.449-2del NP_001278929.1:n.449-2del
XM_005268412.2:c.698-2del XP_005268469.1:n.698-2del
NM_000171.4:c.698-2del MANE Select NP_000162.2:n.698-2del
NM_001146040.2:c.698-2del NP_001139512.1:n.698-2del
NM_001292000.2:c.449-2del NP_001278929.1:n.449-2del