Canonical Allele Identifier: CA2739270342

Gene: GLRB

Linked Data

• ClinVar Variation Id: 2814404
• ClinVar RCV Id: RCV003646276

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136912_157136913insTTGAAATGAGAACATAATTGATT , CM000666.2:g.157136912_157136913insTTGAAATGAGAACATAATTGATT	GRCh38
NC_000004.11:g.158058064_158058065insTTGAAATGAGAACATAATTGATT , CM000666.1:g.158058064_158058065insTTGAAATGAGAACATAATTGATT	GRCh37
NC_000004.10:g.158277514_158277515insTTGAAATGAGAACATAATTGATT	NCBI36
NG_015823.1:g.65788_65789insTTGAAATGAGAACATAATTGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.610+26_610+27insTTGAAATGAGAACATAATTGATT MANE Select	ENSP00000264428.4:n.610+26_610+27insTTGAAATGAGAACATAATTGATT
ENST00000264428.8:c.610+26_610+27insTTGAAATGAGAACATAATTGATT	ENSP00000264428.4:n.610+26_610+27insTTGAAATGAGAACATAATTGATT
ENST00000506411.5:c.*530+26_*530+27insTTGAAATGAGAACATAATTGATT	ENSP00000422039.1:n.*530+26_*530+27insTTGAAATGAGAACATAATTGATT...
ENST00000509282.1:c.610+26_610+27insTTGAAATGAGAACATAATTGATT	ENSP00000427186.1:n.610+26_610+27insTTGAAATGAGAACATAATTGATT
ENST00000510970.1:n.417+26_417+27insTTGAAATGAGAACATAATTGATT
ENST00000512619.5:c.123-33520_123-33519insTTGAAATGAGAACATAATTGATT	ENSP00000425433.1:n.123-33520_123-33519insTTGAAATGAGAACATAATT...
ENST00000541722.5:c.610+26_610+27insTTGAAATGAGAACATAATTGATT	ENSP00000441873.1:n.610+26_610+27insTTGAAATGAGAACATAATTGATT
NM_000824.4:c.610+26_610+27insTTGAAATGAGAACATAATTGATT	NP_000815.1:n.610+26_610+27insTTGAAATGAGAACATAATTGATT
NM_001166060.1:c.610+26_610+27insTTGAAATGAGAACATAATTGATT	NP_001159532.1:n.610+26_610+27insTTGAAATGAGAACATAATTGATT
NM_001166061.1:c.610+26_610+27insTTGAAATGAGAACATAATTGATT	NP_001159533.1:n.610+26_610+27insTTGAAATGAGAACATAATTGATT
XM_011531876.1:c.316+26_316+27insTTGAAATGAGAACATAATTGATT	XP_011530178.1:n.316+26_316+27insTTGAAATGAGAACATAATTGATT
XM_017008034.1:c.316+26_316+27insTTGAAATGAGAACATAATTGATT	XP_016863523.1:n.316+26_316+27insTTGAAATGAGAACATAATTGATT
XM_017008035.2:c.610+26_610+27insTTGAAATGAGAACATAATTGATT	XP_016863524.1:n.610+26_610+27insTTGAAATGAGAACATAATTGATT
XR_001741207.2:n.791+26_791+27insTTGAAATGAGAACATAATTGATT
XR_002959723.1:n.791+26_791+27insTTGAAATGAGAACATAATTGATT
NM_000824.5:c.610+26_610+27insTTGAAATGAGAACATAATTGATT MANE Select	NP_000815.1:n.610+26_610+27insTTGAAATGAGAACATAATTGATT
NM_001166060.2:c.610+26_610+27insTTGAAATGAGAACATAATTGATT	NP_001159532.1:n.610+26_610+27insTTGAAATGAGAACATAATTGATT
NM_001166061.2:c.610+26_610+27insTTGAAATGAGAACATAATTGATT	NP_001159533.1:n.610+26_610+27insTTGAAATGAGAACATAATTGATT