Canonical Allele Identifier: CA2768928613
Gene: GLRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822793_151822794insGT , CM000667.2:g.151822793_151822794insGT GRCh38
NC_000005.9:g.151202354_151202355insGT , CM000667.1:g.151202354_151202355insGT GRCh37
NC_000005.8:g.151182547_151182548insGT NCBI36
NG_011764.1:g.107043_107044insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1229_1230insAC MANE Select ENSP00000274576.5:p.Ala412GlyfsTer?
ENST00000274576.8:c.1229_1230insAC ENSP00000274576.4:p.Ala412GlyfsTer?
ENST00000455880.2:c.1253_1254insAC ENSP00000411593.2:p.Ala420GlyfsTer?
ENST00000462581.6:c.*987_*988insAC ENSP00000430595.1:n.*987_*988insAC
NM_000171.3:c.1229_1230insAC NP_000162.2:p.Ala412GlyfsTer?
NM_001146040.1:c.1253_1254insAC NP_001139512.1:p.Ala420GlyfsTer?
NM_001292000.1:c.980_981insAC NP_001278929.1:p.Ala329GlyfsTer?
NM_000171.4:c.1229_1230insAC MANE Select NP_000162.2:p.Ala412GlyfsTer?
NM_001146040.2:c.1253_1254insAC NP_001139512.1:p.Ala420GlyfsTer?
NM_001292000.2:c.980_981insAC NP_001278929.1:p.Ala329GlyfsTer?