Canonical Allele Identifier: CA2577935467

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941511_150941516del , CM000665.2:g.150941511_150941516del	GRCh38
NC_000003.11:g.150659298_150659303del , CM000665.1:g.150659298_150659303del	GRCh37
NC_000003.10:g.152141988_152141993del	NCBI36
NG_009168.1:g.36488_36493del , LRG_700:g.36488_36493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+70_433+75del MANE Select	ENSP00000322280.1:n.433+70_433+75del
ENST00000468836.2:c.581+70_581+75del	ENSP00000419892.2:n.581+70_581+75del
ENST00000644099.1:c.425+70_425+75del	ENSP00000494762.1:n.425+70_425+75del
ENST00000295911.6:c.205+70_205+75del	ENSP00000295911.2:n.205+70_205+75del
ENST00000327047.5:c.433+70_433+75del	ENSP00000322280.1:n.433+70_433+75del
ENST00000328863.8:c.433+70_433+75del	ENSP00000329158.4:n.433+70_433+75del
ENST00000468836.1:c.205+70_205+75del	ENSP00000419892.1:n.205+70_205+75del
ENST00000472224.1:n.509_514del
ENST00000485607.1:c.97+70_97+75del	ENSP00000419244.1:n.97+70_97+75del
ENST00000562308.5:c.104+70_104+75del
ENST00000565169.1:c.162+70_162+75del
ENST00000569170.5:c.162+70_162+75del
NM_001195794.1:c.433+70_433+75del , LRG_700t1:c.433+70_433+75del	NP_001182723.1:n.433+70_433+75del
NM_001256819.1:c.*47+70_*47+75del	NP_001243748.1:n.*47+70_*47+75del
NM_052995.2:c.205+70_205+75del , LRG_700t2:c.205+70_205+75del	NP_443721.1:n.205+70_205+75del
NM_174878.2:c.433+70_433+75del	NP_777367.1:n.433+70_433+75del
NR_046380.2:n.875+70_875+75del
XR_924167.1:n.745+70_745+75del
NM_001256819.2:c.*47+70_*47+75del	NP_001243748.1:n.*47+70_*47+75del
NM_174878.3:c.433+70_433+75del MANE Select	NP_777367.1:n.433+70_433+75del
NR_046380.3:n.603+70_603+75del