Canonical Allele Identifier: CA1591578671

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851429_151851447delinsCATGGTGAGCACAGTGGTG , CM000667.2:g.151851429_151851447delinsCATGGTGAGCACAGTGGTG	GRCh38
NC_000005.9:g.151230990_151231008delinsCATGGTGAGCACAGTGGTG , CM000667.1:g.151230990_151231008delinsCATGGTGAGCACAGTGGTG	GRCh37
NC_000005.8:g.151211183_151211201delinsCATGGTGAGCACAGTGGTG	NCBI36
NG_011764.1:g.78390_78408delinsCACCACTGTGCTCACCATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.855_873delinsCACCACTGTGCTCACCATG MANE Select	ENSP00000274576.5:p.Ile285=
ENST00000274576.8:c.855_873delinsCACCACTGTGCTCACCATG	ENSP00000274576.4:p.Ile285=
ENST00000455880.2:c.855_873delinsCACCACTGTGCTCACCATG	ENSP00000411593.2:p.Ile285=
ENST00000462581.6:c.*613_*631delinsCACCACTGTGCTCACCATG	ENSP00000430595.1:n.*613_*631delinsCACCAC...
ENST00000471351.2:n.1138_1156delinsCACCACTGTGCTCACCATG
NM_000171.3:c.855_873delinsCACCACTGTGCTCACCATG	NP_000162.2:p.Ile285=
NM_001146040.1:c.855_873delinsCACCACTGTGCTCACCATG	NP_001139512.1:p.Ile285=
NM_001292000.1:c.606_624delinsCACCACTGTGCTCACCATG	NP_001278929.1:p.Ile202=
XM_005268412.2:c.855_873delinsCACCACTGTGCTCACCATG	XP_005268469.1:p.Ile285=
NM_000171.4:c.855_873delinsCACCACTGTGCTCACCATG MANE Select	NP_000162.2:p.Ile285=
NM_001146040.2:c.855_873delinsCACCACTGTGCTCACCATG	NP_001139512.1:p.Ile285=
NM_001292000.2:c.606_624delinsCACCACTGTGCTCACCATG	NP_001278929.1:p.Ile202=