Canonical Allele Identifier: CA563631489

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1479578
• ClinVar RCV Id: RCV001976843 ; RCV002573512
• dbSNP Id: rs1188392402
• gnomAD v2: 5-151230990-CATGGTGAGCACAGTGGTG-C
• gnomAD v3: 5-151851429-CATGGTGAGCACAGTGGTG-C
• gnomAD v4: 5-151851429-CATGGTGAGCACAGTGGTG-C
• MyVariant Identifiers: chr5:g.151230991_151231008del (hg19) ; chr5:g.151851430_151851447del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851433_151851450del , CM000667.2:g.151851433_151851450del	GRCh38
NC_000005.9:g.151230994_151231011del , CM000667.1:g.151230994_151231011del	GRCh37
NC_000005.8:g.151211187_151211204del	NCBI36
NG_011764.1:g.78390_78407del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.855_872del MANE Select	ENSP00000274576.5:p.Ile285_Thr290del
ENST00000274576.8:c.855_872del	ENSP00000274576.4:p.Ile285_Thr290del
ENST00000455880.2:c.855_872del	ENSP00000411593.2:p.Ile285_Thr290del
ENST00000462581.6:c.*613_*630del	ENSP00000430595.1:n.*613_*630del
ENST00000471351.2:n.1138_1155del
NM_000171.3:c.855_872del	NP_000162.2:p.Ile285_Thr290del
NM_001146040.1:c.855_872del	NP_001139512.1:p.Ile285_Thr290del
NM_001292000.1:c.606_623del	NP_001278929.1:p.Ile202_Thr207del
XM_005268412.2:c.855_872del	XP_005268469.1:p.Ile285_Thr290del
NM_000171.4:c.855_872del MANE Select	NP_000162.2:p.Ile285_Thr290del
NM_001146040.2:c.855_872del	NP_001139512.1:p.Ile285_Thr290del
NM_001292000.2:c.606_623del	NP_001278929.1:p.Ile202_Thr207del