Canonical Allele Identifier: CA917036199

Gene: CLRN1

Linked Data

• dbSNP Id: rs1553776037

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972499_150972500insACCCTCTCCGTGGAAAAGCCCGT , CM000665.2:g.150972499_150972500insACCCTCTCCGTGGAAAAGCCCGT	GRCh38
NC_000003.11:g.150690286_150690287insACCCTCTCCGTGGAAAAGCCCGT , CM000665.1:g.150690286_150690287insACCCTCTCCGTGGAAAAGCCCGT	GRCh37
NC_000003.10:g.152172976_152172977insACCCTCTCCGTGGAAAAGCCCGT	NCBI36
NG_009168.1:g.5500_5501insACGGGCTTTTCCACGGAGAGGGT , LRG_700:g.5500_5501insACGGGCTTTTCCACGGAGAGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.209_210insACGGGCTTTTCCACGGAGAGGGT MANE Select	ENSP00000322280.1:p.Val71ArgfsTer9
ENST00000468836.2:c.185_186insACGGGCTTTTCCACGGAGAGGGT	ENSP00000419892.2:p.Val63ArgfsTer9
ENST00000644099.1:c.50_51insACGGGCTTTTCCACGGAGAGGGT	ENSP00000494762.1:p.Val18ArgfsTer9
ENST00000645441.1:c.51_52insACGGGCTTTTCCACGGAGAGGGT
ENST00000327047.5:c.209_210insACGGGCTTTTCCACGGAGAGGGT	ENSP00000322280.1:p.Val71ArgfsTer9
ENST00000328863.8:c.209_210insACGGGCTTTTCCACGGAGAGGGT	ENSP00000329158.4:p.Val71ArgfsTer9
ENST00000468836.1:c.-192_-191insACGGGCTTTTCCACGGAGAGGGT	ENSP00000419892.1:n.-192_-191insACGGGCTTTTCCACGGAGAGGGT
ENST00000472224.1:n.215_216insACGGGCTTTTCCACGGAGAGGGT
NM_001195794.1:c.209_210insACGGGCTTTTCCACGGAGAGGGT , LRG_700t1:c.209_210insACGGGCTTTTCCACGGAGAGGGT	NP_001182723.1:p.Val71ArgfsTer9
NM_001256819.1:c.209_210insACGGGCTTTTCCACGGAGAGGGT	NP_001243748.1:p.Val71ArgfsTer9
NM_174878.2:c.209_210insACGGGCTTTTCCACGGAGAGGGT	NP_777367.1:p.Val71ArgfsTer9
NR_046380.2:n.500_501insACGGGCTTTTCCACGGAGAGGGT
XR_924167.1:n.521_522insACGGGCTTTTCCACGGAGAGGGT
NM_001256819.2:c.209_210insACGGGCTTTTCCACGGAGAGGGT	NP_001243748.1:p.Val71ArgfsTer9
NM_174878.3:c.209_210insACGGGCTTTTCCACGGAGAGGGT MANE Select	NP_777367.1:p.Val71ArgfsTer9
NR_046380.3:n.228_229insACGGGCTTTTCCACGGAGAGGGT