Canonical Allele Identifier: CA2676110979

Gene: GLRA1

Linked Data

• gnomAD v4: 5-151851554-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851554_151851555insT , CM000667.2:g.151851554_151851555insT	GRCh38
NC_000005.9:g.151231115_151231116insT , CM000667.1:g.151231115_151231116insT	GRCh37
NC_000005.8:g.151211308_151211309insT	NCBI36
NG_011764.1:g.78282_78283insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.747_748insA MANE Select	ENSP00000274576.5:p.Tyr250IlefsTer?
ENST00000274576.8:c.747_748insA	ENSP00000274576.4:p.Tyr250IlefsTer?
ENST00000455880.2:c.747_748insA	ENSP00000411593.2:p.Tyr250IlefsTer?
ENST00000462581.6:c.*505_*506insA	ENSP00000430595.1:n.*505_*506insA
ENST00000471351.2:n.1030_1031insA
NM_000171.3:c.747_748insA	NP_000162.2:p.Tyr250IlefsTer?
NM_001146040.1:c.747_748insA	NP_001139512.1:p.Tyr250IlefsTer?
NM_001292000.1:c.498_499insA	NP_001278929.1:p.Tyr167IlefsTer?
XM_005268412.2:c.747_748insA	XP_005268469.1:p.Tyr250IlefsTer?
NM_000171.4:c.747_748insA MANE Select	NP_000162.2:p.Tyr250IlefsTer?
NM_001146040.2:c.747_748insA	NP_001139512.1:p.Tyr250IlefsTer?
NM_001292000.2:c.498_499insA	NP_001278929.1:p.Tyr167IlefsTer?