Canonical Allele Identifier: CA805710172

Gene: GLRA1

Linked Data

• dbSNP Id: rs1230633544
• gnomAD v3: 5-151851241-ACCTGCAAAGATCTGCAGGAT-A
• gnomAD v4: 5-151851241-ACCTGCAAAGATCTGCAGGAT-A
• MyVariant Identifiers: chr5:g.151230803_151230822del (hg19) ; chr5:g.151851242_151851261del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851251_151851270del , CM000667.2:g.151851251_151851270del	GRCh38
NC_000005.9:g.151230812_151230831del , CM000667.1:g.151230812_151230831del	GRCh37
NC_000005.8:g.151211005_151211024del	NCBI36
NG_011764.1:g.78576_78595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.912+129_912+148del MANE Select	ENSP00000274576.5:n.912+129_912+148del
ENST00000274576.8:c.912+129_912+148del	ENSP00000274576.4:n.912+129_912+148del
ENST00000455880.2:c.912+129_912+148del	ENSP00000411593.2:n.912+129_912+148del
ENST00000462581.6:c.*670+129_*670+148del	ENSP00000430595.1:n.*670+129_*670+148del
ENST00000471351.2:n.1195+129_1195+148del
NM_000171.3:c.912+129_912+148del	NP_000162.2:n.912+129_912+148del
NM_001146040.1:c.912+129_912+148del	NP_001139512.1:n.912+129_912+148del
NM_001292000.1:c.663+129_663+148del	NP_001278929.1:n.663+129_663+148del
XM_005268412.2:c.912+129_912+148del	XP_005268469.1:n.912+129_912+148del
NM_000171.4:c.912+129_912+148del MANE Select	NP_000162.2:n.912+129_912+148del
NM_001146040.2:c.912+129_912+148del	NP_001139512.1:n.912+129_912+148del
NM_001292000.2:c.663+129_663+148del	NP_001278929.1:n.663+129_663+148del