Canonical Allele Identifier: CA2839567548

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928173_150928174del , CM000665.2:g.150928173_150928174del	GRCh38
NC_000003.11:g.150645960_150645961del , CM000665.1:g.150645960_150645961del	GRCh37
NC_000003.10:g.152128650_152128651del	NCBI36
NG_009168.1:g.49827_49828del , LRG_700:g.49827_49828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.462_463del MANE Select	ENSP00000322280.1:p.Leu154PhefsTer4
ENST00000468836.2:c.610_611del	ENSP00000419892.2:n.610_611del
ENST00000295911.6:c.234_235del	ENSP00000295911.2:p.Leu78PhefsTer4
ENST00000327047.5:c.462_463del	ENSP00000322280.1:p.Leu154PhefsTer4
ENST00000328863.8:c.501_502del	ENSP00000329158.4:p.Leu167PhefsTer4
ENST00000468836.1:c.234_235del	ENSP00000419892.1:p.Leu78PhefsTer4
ENST00000562308.5:c.104+13409_104+13410del
ENST00000565169.1:c.162+13409_162+13410del
ENST00000569170.5:c.162+13409_162+13410del
NM_001195794.1:c.501_502del , LRG_700t1:c.501_502del	NP_001182723.1:p.Leu167PhefsTer4
NM_001256819.1:c.*76_*77del	NP_001243748.1:n.*76_*77del
NM_052995.2:c.234_235del , LRG_700t2:c.234_235del	NP_443721.1:p.Leu78PhefsTer4
NM_174878.2:c.462_463del	NP_777367.1:p.Leu154PhefsTer4
NR_046380.2:n.943_944del
XR_924167.1:n.774_775del
NM_001256819.2:c.*76_*77del	NP_001243748.1:n.*76_*77del
NM_174878.3:c.462_463del MANE Select	NP_777367.1:p.Leu154PhefsTer4
NR_046380.3:n.671_672del