Canonical Allele Identifier: CA658821418

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941646del , CM000665.2:g.150941646del	GRCh38
NC_000003.11:g.150659433del , CM000665.1:g.150659433del	GRCh37
NC_000003.10:g.152142123del	NCBI36
NG_009168.1:g.36357del , LRG_700:g.36357del

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.372del MANE Select	NP_777367.1:p.Phe124LeufsTer12
ENST00000327047.6:c.372del MANE Select	ENSP00000322280.1:p.Phe124LeufsTer12
NM_001195794.1:c.372del , LRG_700t1:c.372del	NP_001182723.1:p.Phe124LeufsTer12
NM_001256819.1:c.544del	NP_001243748.1:p.Trp182GlyfsTer?
NM_001256819.2:c.544del	NP_001243748.1:p.Trp182GlyfsTer?
NM_052995.2:c.144del , LRG_700t2:c.144del	NP_443721.1:p.Phe48LeufsTer12
NM_174878.2:c.372del	NP_777367.1:p.Phe124LeufsTer12
NR_046380.2:n.814del
NR_046380.3:n.542del
ENST00000295911.6:c.144del	ENSP00000295911.2:p.Phe48LeufsTer12
ENST00000327047.5:c.372del	ENSP00000322280.1:p.Phe124LeufsTer12
ENST00000328863.8:c.372del	ENSP00000329158.4:p.Phe124LeufsTer12
ENST00000468836.1:c.144del	ENSP00000419892.1:p.Phe48LeufsTer12
ENST00000468836.2:c.520del	ENSP00000419892.2:p.Trp174GlyfsTer?
ENST00000472224.1:n.378del
ENST00000485607.1:c.36del	ENSP00000419244.1:p.Phe12LeufsTer12
ENST00000562308.5:c.43del
ENST00000565169.1:c.101del
ENST00000569170.5:c.101del
ENST00000644099.1:c.364del	ENSP00000494762.1:n.364del
XR_924167.1:n.684del