Canonical Allele Identifier: CA3523457

Gene: GLRA1

Linked Data

• dbSNP Id: rs756764912
• ExAC: 5:151202254 CTCTACGGACAATCT / C
• gnomAD v2: 5-151202254-CTCTACGGACAATCT-C
• gnomAD v4: 5-151822693-CTCTACGGACAATCT-C
• MyVariant Identifiers: chr5:g.151202255_151202268del (hg19) ; chr5:g.151822694_151822707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822695_151822708del , CM000667.2:g.151822695_151822708del	GRCh38
NC_000005.9:g.151202256_151202269del , CM000667.1:g.151202256_151202269del	GRCh37
NC_000005.8:g.151182449_151182462del	NCBI36
NG_011764.1:g.107130_107143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1316_1329del MANE Select	ENSP00000274576.5:p.Lys439ArgfsTer?
ENST00000274576.8:c.1316_1329del	ENSP00000274576.4:p.Lys439ArgfsTer?
ENST00000455880.2:c.1340_1353del	ENSP00000411593.2:p.Lys447ArgfsTer?
ENST00000462581.6:c.*1074_*1087del	ENSP00000430595.1:n.*1074_*1087del
NM_000171.3:c.1316_1329del	NP_000162.2:p.Lys439ArgfsTer?
NM_001146040.1:c.1340_1353del	NP_001139512.1:p.Lys447ArgfsTer?
NM_001292000.1:c.1067_1080del	NP_001278929.1:p.Lys356ArgfsTer?
NM_000171.4:c.1316_1329del MANE Select	NP_000162.2:p.Lys439ArgfsTer?
NM_001146040.2:c.1340_1353del	NP_001139512.1:p.Lys447ArgfsTer?
NM_001292000.2:c.1067_1080del	NP_001278929.1:p.Lys356ArgfsTer?