Canonical Allele Identifier: CA1591565194
Gene: GLRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822702_151822703delinsCA , CM000667.2:g.151822702_151822703delinsCA GRCh38
NC_000005.9:g.151202263_151202264delinsCA , CM000667.1:g.151202263_151202264delinsCA GRCh37
NC_000005.8:g.151182456_151182457delinsCA NCBI36
NG_011764.1:g.107134_107135delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1320_1321delinsTG MANE Select ENSP00000274576.5:p.Ile440=
ENST00000274576.8:c.1320_1321delinsTG ENSP00000274576.4:p.Ile440=
ENST00000455880.2:c.1344_1345delinsTG ENSP00000411593.2:p.Ile448=
ENST00000462581.6:c.*1078_*1079delinsTG ENSP00000430595.1:n.*1078_*1079delinsTG
NM_000171.3:c.1320_1321delinsTG NP_000162.2:p.Ile440=
NM_001146040.1:c.1344_1345delinsTG NP_001139512.1:p.Ile448=
NM_001292000.1:c.1071_1072delinsTG NP_001278929.1:p.Ile357=
NM_000171.4:c.1320_1321delinsTG MANE Select NP_000162.2:p.Ile440=
NM_001146040.2:c.1344_1345delinsTG NP_001139512.1:p.Ile448=
NM_001292000.2:c.1071_1072delinsTG NP_001278929.1:p.Ile357=