Canonical Allele Identifier: CA2676108860

Gene: GLRA1

Linked Data

• gnomAD v4: 5-151829016-CAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151829018_151829021del , CM000667.2:g.151829018_151829021del	GRCh38
NC_000005.9:g.151208579_151208582del , CM000667.1:g.151208579_151208582del	GRCh37
NC_000005.8:g.151188772_151188775del	NCBI36
NG_011764.1:g.100817_100820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.960_963del MANE Select	ENSP00000274576.5:p.Phe321CysfsTer6
ENST00000274576.8:c.960_963del	ENSP00000274576.4:p.Phe321CysfsTer6
ENST00000455880.2:c.960_963del	ENSP00000411593.2:p.Phe321CysfsTer6
ENST00000462581.6:c.*718_*721del	ENSP00000430595.1:n.*718_*721del
NM_000171.3:c.960_963del	NP_000162.2:p.Phe321CysfsTer6
NM_001146040.1:c.960_963del	NP_001139512.1:p.Phe321CysfsTer6
NM_001292000.1:c.711_714del	NP_001278929.1:p.Phe238CysfsTer6
NM_000171.4:c.960_963del MANE Select	NP_000162.2:p.Phe321CysfsTer6
NM_001146040.2:c.960_963del	NP_001139512.1:p.Phe321CysfsTer6
NM_001292000.2:c.711_714del	NP_001278929.1:p.Phe238CysfsTer6