Canonical Allele Identifier: CA2573139331

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1602496
• ClinVar RCV Id: RCV002137208
• dbSNP Id: rs2113343234

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851381_151851382insCTCGAGAGCCGGCA , CM000667.2:g.151851381_151851382insCTCGAGAGCCGGCA	GRCh38
NC_000005.9:g.151230942_151230943insCTCGAGAGCCGGCA , CM000667.1:g.151230942_151230943insCTCGAGAGCCGGCA	GRCh37
NC_000005.8:g.151211135_151211136insCTCGAGAGCCGGCA	NCBI36
NG_011764.1:g.78455_78456insTGCCGGCTCTCGAG

Transcript Alleles

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