Canonical Allele Identifier: CA2676107589

Gene: GLRA1

Linked Data

• gnomAD v4: 5-151822740-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822742del , CM000667.2:g.151822742del	GRCh38
NC_000005.9:g.151202303del , CM000667.1:g.151202303del	GRCh37
NC_000005.8:g.151182496del	NCBI36
NG_011764.1:g.107096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1282del MANE Select	ENSP00000274576.5:p.Leu428SerfsTer?
ENST00000274576.8:c.1282del	ENSP00000274576.4:p.Leu428SerfsTer?
ENST00000455880.2:c.1306del	ENSP00000411593.2:p.Leu436SerfsTer?
ENST00000462581.6:c.*1040del	ENSP00000430595.1:n.*1040del
NM_000171.3:c.1282del	NP_000162.2:p.Leu428SerfsTer?
NM_001146040.1:c.1306del	NP_001139512.1:p.Leu436SerfsTer?
NM_001292000.1:c.1033del	NP_001278929.1:p.Leu345SerfsTer?
NM_000171.4:c.1282del MANE Select	NP_000162.2:p.Leu428SerfsTer?
NM_001146040.2:c.1306del	NP_001139512.1:p.Leu436SerfsTer?
NM_001292000.2:c.1033del	NP_001278929.1:p.Leu345SerfsTer?