Canonical Allele Identifier: CA1591565322

Gene: GLRA1

Linked Data

• dbSNP Id: rs1763180747

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822970_151822971insGCGAAAACTCTTCATCCAG , CM000667.2:g.151822970_151822971insGCGAAAACTCTTCATCCAG	GRCh38
NC_000005.9:g.151202531_151202532insGCGAAAACTCTTCATCCAG , CM000667.1:g.151202531_151202532insGCGAAAACTCTTCATCCAG	GRCh37
NC_000005.8:g.151182724_151182725insGCGAAAACTCTTCATCCAG	NCBI36
NG_011764.1:g.106866_106867insCTGGATGAAGAGTTTTCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1060-8_1060-7insCTGGATGAAGAGTTTTCGC MANE Select	ENSP00000274576.5:n.1060-8_1060-7insCTGGATGAAGAGTTTTCGC
ENST00000274576.8:c.1060-8_1060-7insCTGGATGAAGAGTTTTCGC	ENSP00000274576.4:n.1060-8_1060-7insCTGGATGAAGAGTTTTCGC
ENST00000455880.2:c.1076_1077insCTGGATGAAGAGTTTTCGC	ENSP00000411593.2:p.Phe360TrpfsTer11
ENST00000462581.6:c.*818-8_*818-7insCTGGATGAAGAGTTTTCGC	ENSP00000430595.1:n.*818-8_*818-7insCTGGATGAAGAGTTTTCGC
NM_000171.3:c.1060-8_1060-7insCTGGATGAAGAGTTTTCGC	NP_000162.2:n.1060-8_1060-7insCTGGATGAAGAGTTTTCGC
NM_001146040.1:c.1076_1077insCTGGATGAAGAGTTTTCGC	NP_001139512.1:p.Phe360TrpfsTer11
NM_001292000.1:c.811-8_811-7insCTGGATGAAGAGTTTTCGC	NP_001278929.1:n.811-8_811-7insCTGGATGAAGAGTTTTCGC
NM_000171.4:c.1060-8_1060-7insCTGGATGAAGAGTTTTCGC MANE Select	NP_000162.2:n.1060-8_1060-7insCTGGATGAAGAGTTTTCGC
NM_001146040.2:c.1076_1077insCTGGATGAAGAGTTTTCGC	NP_001139512.1:p.Phe360TrpfsTer11
NM_001292000.2:c.811-8_811-7insCTGGATGAAGAGTTTTCGC	NP_001278929.1:n.811-8_811-7insCTGGATGAAGAGTTTTCGC