Canonical Allele Identifier: CA130006540

Gene: GLRA1

Linked Data

• dbSNP Id: rs1052141201
• gnomAD v4: 5-151822993-TAAAATA-T
• MyVariant Identifiers: chr5:g.151202555_151202560del (hg19) ; chr5:g.151822994_151822999del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822995_151823000del , CM000667.2:g.151822995_151823000del	GRCh38
NC_000005.9:g.151202556_151202561del , CM000667.1:g.151202556_151202561del	GRCh37
NC_000005.8:g.151182749_151182754del	NCBI36
NG_011764.1:g.106838_106843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1060-36_1060-31del MANE Select	ENSP00000274576.5:n.1060-36_1060-31del
ENST00000274576.8:c.1060-36_1060-31del	ENSP00000274576.4:n.1060-36_1060-31del
ENST00000455880.2:c.1060-12_1060-7del	ENSP00000411593.2:n.1060-12_1060-7del
ENST00000462581.6:c.*818-36_*818-31del	ENSP00000430595.1:n.*818-36_*818-31del
NM_000171.3:c.1060-36_1060-31del	NP_000162.2:n.1060-36_1060-31del
NM_001146040.1:c.1060-12_1060-7del	NP_001139512.1:n.1060-12_1060-7del
NM_001292000.1:c.811-36_811-31del	NP_001278929.1:n.811-36_811-31del
NM_000171.4:c.1060-36_1060-31del MANE Select	NP_000162.2:n.1060-36_1060-31del
NM_001146040.2:c.1060-12_1060-7del	NP_001139512.1:n.1060-12_1060-7del
NM_001292000.2:c.811-36_811-31del	NP_001278929.1:n.811-36_811-31del