Canonical Allele Identifier: CA2577935408

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926799_150926805del , CM000665.2:g.150926799_150926805del	GRCh38
NC_000003.11:g.150644586_150644592del , CM000665.1:g.150644586_150644592del	GRCh37
NC_000003.10:g.152127276_152127282del	NCBI36
NG_009168.1:g.51198_51204del , LRG_700:g.51198_51204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*1134_*1140del MANE Select	ENSP00000322280.1:n.*1134_*1140del
ENST00000295911.6:c.*50_*56del	ENSP00000295911.2:n.*50_*56del
ENST00000327047.5:c.*1134_*1140del	ENSP00000322280.1:n.*1134_*1140del
ENST00000562308.5:c.104+14780_104+14786del
ENST00000565169.1:c.162+14780_162+14786del
ENST00000569170.5:c.162+14780_162+14786del
NM_001195794.1:c.*1134_*1140del , LRG_700t1:c.*1134_*1140del	NP_001182723.1:n.*1134_*1140del
NM_001256819.1:c.*1447_*1453del	NP_001243748.1:n.*1447_*1453del
NM_052995.2:c.*50_*56del , LRG_700t2:c.*50_*56del	NP_443721.1:n.*50_*56del
NM_174878.2:c.*1134_*1140del	NP_777367.1:n.*1134_*1140del
NR_046380.2:n.2314_2320del
XR_924167.1:n.2145_2151del
NM_001256819.2:c.*1447_*1453del	NP_001243748.1:n.*1447_*1453del
NM_174878.3:c.*1134_*1140del MANE Select	NP_777367.1:n.*1134_*1140del
NR_046380.3:n.2042_2048del