Canonical Allele Identifier: CA2758898232
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150940495_150940496insGTATCATTAAAAAAC , CM000665.2:g.150940495_150940496insGTATCATTAAAAAAC GRCh38
NC_000003.11:g.150658282_150658283insGTATCATTAAAAAAC , CM000665.1:g.150658282_150658283insGTATCATTAAAAAAC GRCh37
NC_000003.10:g.152140972_152140973insGTATCATTAAAAAAC NCBI36
NG_009168.1:g.37505_37506insTTTTTTAATGATACG , LRG_700:g.37505_37506insTTTTTTAATGATACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.433+1087_433+1088insTTTTTTAATGATACG MANE Select ENSP00000322280.1:n.433+1087_433+1088insTTTTTTAATGATACG
ENST00000468836.2:c.581+1087_581+1088insTTTTTTAATGATACG ENSP00000419892.2:n.581+1087_581+1088insTTTTTTAATGATACG
ENST00000644099.1:c.450_451insTTTTTTAATGATACG ENSP00000494762.1:n.450_451insTTTTTTAATGATACG
ENST00000295911.6:c.205+1087_205+1088insTTTTTTAATGATACG ENSP00000295911.2:n.205+1087_205+1088insTTTTTTAATGATACG
ENST00000327047.5:c.433+1087_433+1088insTTTTTTAATGATACG ENSP00000322280.1:n.433+1087_433+1088insTTTTTTAATGATACG
ENST00000328863.8:c.458_459insTTTTTTAATGATACG ENSP00000329158.4:p.Thr152_Arg153insSerPheLeuMetIle
ENST00000468836.1:c.205+1087_205+1088insTTTTTTAATGATACG ENSP00000419892.1:n.205+1087_205+1088insTTTTTTAATGATACG
ENST00000485607.1:c.97+1087_97+1088insTTTTTTAATGATACG ENSP00000419244.1:n.97+1087_97+1088insTTTTTTAATGATACG
ENST00000562308.5:c.104+1087_104+1088insTTTTTTAATGATACG
ENST00000565169.1:c.162+1087_162+1088insTTTTTTAATGATACG
ENST00000569170.5:c.162+1087_162+1088insTTTTTTAATGATACG
NM_001195794.1:c.458_459insTTTTTTAATGATACG , LRG_700t1:c.458_459insTTTTTTAATGATACG NP_001182723.1:p.Thr152_Arg153insSerPheLeuMetIle
NM_001256819.1:c.*47+1087_*47+1088insTTTTTTAATGATACG NP_001243748.1:n.*47+1087_*47+1088insTTTTTTAATGATACG
NM_052995.2:c.205+1087_205+1088insTTTTTTAATGATACG , LRG_700t2:c.205+1087_205+1088insTTTTTTAATGATACG NP_443721.1:n.205+1087_205+1088insTTTTTTAATGATACG
NM_174878.2:c.433+1087_433+1088insTTTTTTAATGATACG NP_777367.1:n.433+1087_433+1088insTTTTTTAATGATACG
NR_046380.2:n.900_901insTTTTTTAATGATACG
XR_924167.1:n.745+1087_745+1088insTTTTTTAATGATACG
NM_001256819.2:c.*47+1087_*47+1088insTTTTTTAATGATACG NP_001243748.1:n.*47+1087_*47+1088insTTTTTTAATGATACG
NM_174878.3:c.433+1087_433+1088insTTTTTTAATGATACG MANE Select NP_777367.1:n.433+1087_433+1088insTTTTTTAATGATACG
NR_046380.3:n.628_629insTTTTTTAATGATACG