Canonical Allele Identifier: CA3523526

Gene: GLRA1

Linked Data

• dbSNP Id: rs749092266
• ExAC: 5:151202564 CAG / C
• gnomAD v2: 5-151202564-CAG-C
• gnomAD v3: 5-151823003-CAG-C
• gnomAD v4: 5-151823003-CAG-C
• MyVariant Identifiers: chr5:g.151202565_151202566del (hg19) ; chr5:g.151823004_151823005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151823004_151823005del , CM000667.2:g.151823004_151823005del	GRCh38
NC_000005.9:g.151202565_151202566del , CM000667.1:g.151202565_151202566del	GRCh37
NC_000005.8:g.151182758_151182759del	NCBI36
NG_011764.1:g.106832_106833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1060-42_1060-41del MANE Select	ENSP00000274576.5:n.1060-42_1060-41del
ENST00000274576.8:c.1060-42_1060-41del	ENSP00000274576.4:n.1060-42_1060-41del
ENST00000455880.2:c.1060-18_1060-17del	ENSP00000411593.2:n.1060-18_1060-17del
ENST00000462581.6:c.*818-42_*818-41del	ENSP00000430595.1:n.*818-42_*818-41del
NM_000171.3:c.1060-42_1060-41del	NP_000162.2:n.1060-42_1060-41del
NM_001146040.1:c.1060-18_1060-17del	NP_001139512.1:n.1060-18_1060-17del
NM_001292000.1:c.811-42_811-41del	NP_001278929.1:n.811-42_811-41del
NM_000171.4:c.1060-42_1060-41del MANE Select	NP_000162.2:n.1060-42_1060-41del
NM_001146040.2:c.1060-18_1060-17del	NP_001139512.1:n.1060-18_1060-17del
NM_001292000.2:c.811-42_811-41del	NP_001278929.1:n.811-42_811-41del