Canonical Allele Identifier: CA2697546553

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 2756322
• ClinVar RCV Id: RCV003597031

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851578del , CM000667.2:g.151851578del	GRCh38
NC_000005.9:g.151231139del , CM000667.1:g.151231139del	GRCh37
NC_000005.8:g.151211332del	NCBI36
NG_011764.1:g.78260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.725del MANE Select	ENSP00000274576.5:p.Phe242SerfsTer11
ENST00000274576.8:c.725del	ENSP00000274576.4:p.Phe242SerfsTer11
ENST00000455880.2:c.725del	ENSP00000411593.2:p.Phe242SerfsTer11
ENST00000462581.6:c.*483del	ENSP00000430595.1:n.*483del
ENST00000471351.2:n.1008del
NM_000171.3:c.725del	NP_000162.2:p.Phe242SerfsTer11
NM_001146040.1:c.725del	NP_001139512.1:p.Phe242SerfsTer11
NM_001292000.1:c.476del	NP_001278929.1:p.Phe159SerfsTer11
XM_005268412.2:c.725del	XP_005268469.1:p.Phe242SerfsTer11
NM_000171.4:c.725del MANE Select	NP_000162.2:p.Phe242SerfsTer11
NM_001146040.2:c.725del	NP_001139512.1:p.Phe242SerfsTer11
NM_001292000.2:c.476del	NP_001278929.1:p.Phe159SerfsTer11