Canonical Allele Identifier: CA325637
Gene: GLRA1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.151859963del
GRCh37 chr5:g.151239524del
gnomAD v2:
5:151239523 CG / C
gnomAD v3:
5:151859962 CG / C
gnomAD v4:
chr5-151859962-CG-C
Joint Max Group AF 0.00003259 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00003171 (NFE)
ClinVar RCV:
RCV000017445
RCV001376578
ClinVar Variation:
16067
dbSNP:
281864915
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151859967del , CM000667.2:g.151859967del GRCh38
NC_000005.9:g.151239528del , CM000667.1:g.151239528del GRCh37
NC_000005.8:g.151219721del NCBI36
NG_011764.1:g.69874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.298del MANE Select ENSP00000274576.5:p.Arg100AlafsTer?
ENST00000274576.8:c.298del ENSP00000274576.4:p.Arg100AlafsTer?
ENST00000455880.2:c.298del ENSP00000411593.2:p.Arg100AlafsTer?
ENST00000462581.6:c.*56del ENSP00000430595.1:n.*56del
ENST00000471351.2:n.581del
NM_000171.3:c.298del NP_000162.2:p.Arg100AlafsTer?
NM_001146040.1:c.298del NP_001139512.1:p.Arg100AlafsTer?
NM_001292000.1:c.49del NP_001278929.1:p.Arg17AlafsTer?
XM_005268412.2:c.298del XP_005268469.1:p.Arg100AlafsTer?
XR_002956230.1:n.229+2074del
NM_000171.4:c.298del MANE Select NP_000162.2:p.Arg100AlafsTer?
NM_001146040.2:c.298del NP_001139512.1:p.Arg100AlafsTer?
NM_001292000.2:c.49del NP_001278929.1:p.Arg17AlafsTer?
Search 100 bp 5'
Search 100 bp 3'