Canonical Allele Identifier: CA1591565186

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822693_151822707delinsCTCTACGGACAATCT , CM000667.2:g.151822693_151822707delinsCTCTACGGACAATCT	GRCh38
NC_000005.9:g.151202254_151202268delinsCTCTACGGACAATCT , CM000667.1:g.151202254_151202268delinsCTCTACGGACAATCT	GRCh37
NC_000005.8:g.151182447_151182461delinsCTCTACGGACAATCT	NCBI36
NG_011764.1:g.107130_107144delinsAGATTGTCCGTAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1316_1330delinsAGATTGTCCGTAGAG MANE Select	ENSP00000274576.5:p.Lys439=
ENST00000274576.8:c.1316_1330delinsAGATTGTCCGTAGAG	ENSP00000274576.4:p.Lys439=
ENST00000455880.2:c.1340_1354delinsAGATTGTCCGTAGAG	ENSP00000411593.2:p.Lys447=
ENST00000462581.6:c.*1074_*1088delinsAGATTGTCCGTAGAG	ENSP00000430595.1:n.*1074_*1088delinsAGATTGTCCGTAGAG
NM_000171.3:c.1316_1330delinsAGATTGTCCGTAGAG	NP_000162.2:p.Lys439=
NM_001146040.1:c.1340_1354delinsAGATTGTCCGTAGAG	NP_001139512.1:p.Lys447=
NM_001292000.1:c.1067_1081delinsAGATTGTCCGTAGAG	NP_001278929.1:p.Lys356=
NM_000171.4:c.1316_1330delinsAGATTGTCCGTAGAG MANE Select	NP_000162.2:p.Lys439=
NM_001146040.2:c.1340_1354delinsAGATTGTCCGTAGAG	NP_001139512.1:p.Lys447=
NM_001292000.2:c.1067_1081delinsAGATTGTCCGTAGAG	NP_001278929.1:p.Lys356=