Canonical Allele Identifier: CA2768928623
Gene: GLRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822801del , CM000667.2:g.151822801del GRCh38
NC_000005.9:g.151202362del , CM000667.1:g.151202362del GRCh37
NC_000005.8:g.151182555del NCBI36
NG_011764.1:g.107037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1223del MANE Select ENSP00000274576.5:p.Phe408SerfsTer?
ENST00000274576.8:c.1223del ENSP00000274576.4:p.Phe408SerfsTer?
ENST00000455880.2:c.1247del ENSP00000411593.2:p.Phe416SerfsTer?
ENST00000462581.6:c.*981del ENSP00000430595.1:n.*981del
NM_000171.3:c.1223del NP_000162.2:p.Phe408SerfsTer?
NM_001146040.1:c.1247del NP_001139512.1:p.Phe416SerfsTer?
NM_001292000.1:c.974del NP_001278929.1:p.Phe325SerfsTer?
NM_000171.4:c.1223del MANE Select NP_000162.2:p.Phe408SerfsTer?
NM_001146040.2:c.1247del NP_001139512.1:p.Phe416SerfsTer?
NM_001292000.2:c.974del NP_001278929.1:p.Phe325SerfsTer?