Canonical Allele Identifier: CA3523556
Gene: GLRA1 HGNC NCBI

Linked Data

dbSNP Id: rs748216046

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151828960_151828962del , CM000667.2:g.151828960_151828962del GRCh38
NC_000005.9:g.151208521_151208523del , CM000667.1:g.151208521_151208523del GRCh37
NC_000005.8:g.151188714_151188716del NCBI36
NG_011764.1:g.100875_100877del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1018_1020del MANE Select ENSP00000274576.5:p.Lys340del
ENST00000274576.8:c.1018_1020del ENSP00000274576.4:p.Lys340del
ENST00000455880.2:c.1018_1020del ENSP00000411593.2:p.Lys340del
ENST00000462581.6:c.*776_*778del ENSP00000430595.1:n.*776_*778del
NM_000171.3:c.1018_1020del NP_000162.2:p.Lys340del
NM_001146040.1:c.1018_1020del NP_001139512.1:p.Lys340del
NM_001292000.1:c.769_771del NP_001278929.1:p.Lys257del
NM_000171.4:c.1018_1020del MANE Select NP_000162.2:p.Lys340del
NM_001146040.2:c.1018_1020del NP_001139512.1:p.Lys340del
NM_001292000.2:c.769_771del NP_001278929.1:p.Lys257del