Canonical Allele Identifier: CA2676108907

Gene: GLRA1

Linked Data

• gnomAD v4: 5-151829044-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151829045_151829046del , CM000667.2:g.151829045_151829046del	GRCh38
NC_000005.9:g.151208606_151208607del , CM000667.1:g.151208606_151208607del	GRCh37
NC_000005.8:g.151188799_151188800del	NCBI36
NG_011764.1:g.100791_100792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.934_935del MANE Select	ENSP00000274576.5:p.Asp312HisfsTer21
ENST00000274576.8:c.934_935del	ENSP00000274576.4:p.Asp312HisfsTer21
ENST00000455880.2:c.934_935del	ENSP00000411593.2:p.Asp312HisfsTer21
ENST00000462581.6:c.*692_*693del	ENSP00000430595.1:n.*692_*693del
NM_000171.3:c.934_935del	NP_000162.2:p.Asp312HisfsTer21
NM_001146040.1:c.934_935del	NP_001139512.1:p.Asp312HisfsTer21
NM_001292000.1:c.685_686del	NP_001278929.1:p.Asp229HisfsTer21
NM_000171.4:c.934_935del MANE Select	NP_000162.2:p.Asp312HisfsTer21
NM_001146040.2:c.934_935del	NP_001139512.1:p.Asp312HisfsTer21
NM_001292000.2:c.685_686del	NP_001278929.1:p.Asp229HisfsTer21