Canonical Allele Identifier: CA2573139329

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1581593
• ClinVar RCV Id: RCV002097298
• dbSNP Id: rs2113343212
• gnomAD v4: 5-151851378-A-AGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851378_151851379insGAG , CM000667.2:g.151851378_151851379insGAG	GRCh38
NC_000005.9:g.151230939_151230940insGAG , CM000667.1:g.151230939_151230940insGAG	GRCh37
NC_000005.8:g.151211132_151211133insGAG	NCBI36
NG_011764.1:g.78458_78459insCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.912+11_912+12insCTC MANE Select	ENSP00000274576.5:n.912+11_912+12insCTC
ENST00000274576.8:c.912+11_912+12insCTC	ENSP00000274576.4:n.912+11_912+12insCTC
ENST00000455880.2:c.912+11_912+12insCTC	ENSP00000411593.2:n.912+11_912+12insCTC
ENST00000462581.6:c.*670+11_*670+12insCTC	ENSP00000430595.1:n.*670+11_*670+12insCTC...
ENST00000471351.2:n.1195+11_1195+12insCTC
NM_000171.3:c.912+11_912+12insCTC	NP_000162.2:n.912+11_912+12insCTC
NM_001146040.1:c.912+11_912+12insCTC	NP_001139512.1:n.912+11_912+12insCTC
NM_001292000.1:c.663+11_663+12insCTC	NP_001278929.1:n.663+11_663+12insCTC
XM_005268412.2:c.912+11_912+12insCTC	XP_005268469.1:n.912+11_912+12insCTC
NM_000171.4:c.912+11_912+12insCTC MANE Select	NP_000162.2:n.912+11_912+12insCTC
NM_001146040.2:c.912+11_912+12insCTC	NP_001139512.1:n.912+11_912+12insCTC
NM_001292000.2:c.663+11_663+12insCTC	NP_001278929.1:n.663+11_663+12insCTC