Canonical Allele Identifier: CA1591567983
Gene: GLRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151828959_151828962delinsCCTT , CM000667.2:g.151828959_151828962delinsCCTT GRCh38
NC_000005.9:g.151208520_151208523delinsCCTT , CM000667.1:g.151208520_151208523delinsCCTT GRCh37
NC_000005.8:g.151188713_151188716delinsCCTT NCBI36
NG_011764.1:g.100875_100878delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1018_1021delinsAAGG MANE Select ENSP00000274576.5:p.Lys340=
ENST00000274576.8:c.1018_1021delinsAAGG ENSP00000274576.4:p.Lys340=
ENST00000455880.2:c.1018_1021delinsAAGG ENSP00000411593.2:p.Lys340=
ENST00000462581.6:c.*776_*779delinsAAGG ENSP00000430595.1:n.*776_*779delinsAAGG
NM_000171.3:c.1018_1021delinsAAGG NP_000162.2:p.Lys340=
NM_001146040.1:c.1018_1021delinsAAGG NP_001139512.1:p.Lys340=
NM_001292000.1:c.769_772delinsAAGG NP_001278929.1:p.Lys257=
NM_000171.4:c.1018_1021delinsAAGG MANE Select NP_000162.2:p.Lys340=
NM_001146040.2:c.1018_1021delinsAAGG NP_001139512.1:p.Lys340=
NM_001292000.2:c.769_772delinsAAGG NP_001278929.1:p.Lys257=