Canonical Allele Identifier: CA1410883252

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928144_150928145delinsAG , CM000665.2:g.150928144_150928145delinsAG	GRCh38
NC_000003.11:g.150645931_150645932delinsAG , CM000665.1:g.150645931_150645932delinsAG	GRCh37
NC_000003.10:g.152128621_152128622delinsAG	NCBI36
NG_009168.1:g.49855_49856delinsCT , LRG_700:g.49855_49856delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.490_491delinsCT MANE Select	ENSP00000322280.1:p.Leu164=
ENST00000468836.2:c.638_639delinsCT	ENSP00000419892.2:n.638_639delinsCT
ENST00000295911.6:c.262_263delinsCT	ENSP00000295911.2:p.Leu88=
ENST00000327047.5:c.490_491delinsCT	ENSP00000322280.1:p.Leu164=
ENST00000328863.8:c.529_530delinsCT	ENSP00000329158.4:p.Leu177=
ENST00000468836.1:c.262_263delinsCT	ENSP00000419892.1:p.Leu88=
ENST00000562308.5:c.104+13437_104+13438delinsCT
ENST00000565169.1:c.162+13437_162+13438delinsCT
ENST00000569170.5:c.162+13437_162+13438delinsCT
NM_001195794.1:c.529_530delinsCT , LRG_700t1:c.529_530delinsCT	NP_001182723.1:p.Leu177=
NM_001256819.1:c.*104_*105delinsCT	NP_001243748.1:n.*104_*105delinsCT
NM_052995.2:c.262_263delinsCT , LRG_700t2:c.262_263delinsCT	NP_443721.1:p.Leu88=
NM_174878.2:c.490_491delinsCT	NP_777367.1:p.Leu164=
NR_046380.2:n.971_972delinsCT
XR_924167.1:n.802_803delinsCT
NM_001256819.2:c.*104_*105delinsCT	NP_001243748.1:n.*104_*105delinsCT
NM_174878.3:c.490_491delinsCT MANE Select	NP_777367.1:p.Leu164=
NR_046380.3:n.699_700delinsCT