Canonical Allele Identifier: CA2578460287

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822841_151822842dup , CM000667.2:g.151822841_151822842dup	GRCh38
NC_000005.9:g.151202402_151202403dup , CM000667.1:g.151202402_151202403dup	GRCh37
NC_000005.8:g.151182595_151182596dup	NCBI36
NG_011764.1:g.106996_106997dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1182_1183dup MANE Select	ENSP00000274576.5:p.Pro395LeufsTer?
ENST00000274576.8:c.1182_1183dup	ENSP00000274576.4:p.Pro395LeufsTer?
ENST00000455880.2:c.1206_1207dup	ENSP00000411593.2:p.Pro403LeufsTer?
ENST00000462581.6:c.*940_*941dup	ENSP00000430595.1:n.*940_*941dup
NM_000171.3:c.1182_1183dup	NP_000162.2:p.Pro395LeufsTer?
NM_001146040.1:c.1206_1207dup	NP_001139512.1:p.Pro403LeufsTer?
NM_001292000.1:c.933_934dup	NP_001278929.1:p.Pro312LeufsTer?
NM_000171.4:c.1182_1183dup MANE Select	NP_000162.2:p.Pro395LeufsTer?
NM_001146040.2:c.1206_1207dup	NP_001139512.1:p.Pro403LeufsTer?
NM_001292000.2:c.933_934dup	NP_001278929.1:p.Pro312LeufsTer?