Canonical Allele Identifier: CA2758898278

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940669_150940671del , CM000665.2:g.150940669_150940671del	GRCh38
NC_000003.11:g.150658456_150658458del , CM000665.1:g.150658456_150658458del	GRCh37
NC_000003.10:g.152141146_152141148del	NCBI36
NG_009168.1:g.37329_37331del , LRG_700:g.37329_37331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+911_433+913del MANE Select	ENSP00000322280.1:n.433+911_433+913del
ENST00000468836.2:c.581+911_581+913del	ENSP00000419892.2:n.581+911_581+913del
ENST00000644099.1:c.426-152_426-150del	ENSP00000494762.1:n.426-152_426-150del
ENST00000295911.6:c.205+911_205+913del	ENSP00000295911.2:n.205+911_205+913del
ENST00000327047.5:c.433+911_433+913del	ENSP00000322280.1:n.433+911_433+913del
ENST00000328863.8:c.434-152_434-150del	ENSP00000329158.4:n.434-152_434-150del
ENST00000468836.1:c.205+911_205+913del	ENSP00000419892.1:n.205+911_205+913del
ENST00000485607.1:c.97+911_97+913del	ENSP00000419244.1:n.97+911_97+913del
ENST00000562308.5:c.104+911_104+913del
ENST00000565169.1:c.162+911_162+913del
ENST00000569170.5:c.162+911_162+913del
NM_001195794.1:c.434-152_434-150del , LRG_700t1:c.434-152_434-150del	NP_001182723.1:n.434-152_434-150del
NM_001256819.1:c.*47+911_*47+913del	NP_001243748.1:n.*47+911_*47+913del
NM_052995.2:c.205+911_205+913del , LRG_700t2:c.205+911_205+913del	NP_443721.1:n.205+911_205+913del
NM_174878.2:c.433+911_433+913del	NP_777367.1:n.433+911_433+913del
NR_046380.2:n.876-152_876-150del
XR_924167.1:n.745+911_745+913del
NM_001256819.2:c.*47+911_*47+913del	NP_001243748.1:n.*47+911_*47+913del
NM_174878.3:c.433+911_433+913del MANE Select	NP_777367.1:n.433+911_433+913del
NR_046380.3:n.604-152_604-150del