Canonical Allele Identifier: CA2559786138

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940819_150940823del , CM000665.2:g.150940819_150940823del	GRCh38
NC_000003.11:g.150658606_150658610del , CM000665.1:g.150658606_150658610del	GRCh37
NC_000003.10:g.152141296_152141300del	NCBI36
NG_009168.1:g.37177_37181del , LRG_700:g.37177_37181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+759_433+763del MANE Select	ENSP00000322280.1:n.433+759_433+763del
ENST00000468836.2:c.581+759_581+763del	ENSP00000419892.2:n.581+759_581+763del
ENST00000644099.1:c.426-304_426-300del	ENSP00000494762.1:n.426-304_426-300del
ENST00000295911.6:c.205+759_205+763del	ENSP00000295911.2:n.205+759_205+763del
ENST00000327047.5:c.433+759_433+763del	ENSP00000322280.1:n.433+759_433+763del
ENST00000328863.8:c.434-304_434-300del	ENSP00000329158.4:n.434-304_434-300del
ENST00000468836.1:c.205+759_205+763del	ENSP00000419892.1:n.205+759_205+763del
ENST00000485607.1:c.97+759_97+763del	ENSP00000419244.1:n.97+759_97+763del
ENST00000562308.5:c.104+759_104+763del
ENST00000565169.1:c.162+759_162+763del
ENST00000569170.5:c.162+759_162+763del
NM_001195794.1:c.434-304_434-300del , LRG_700t1:c.434-304_434-300del	NP_001182723.1:n.434-304_434-300del
NM_001256819.1:c.*47+759_*47+763del	NP_001243748.1:n.*47+759_*47+763del
NM_052995.2:c.205+759_205+763del , LRG_700t2:c.205+759_205+763del	NP_443721.1:n.205+759_205+763del
NM_174878.2:c.433+759_433+763del	NP_777367.1:n.433+759_433+763del
NR_046380.2:n.876-304_876-300del
XR_924167.1:n.745+759_745+763del
NM_001256819.2:c.*47+759_*47+763del	NP_001243748.1:n.*47+759_*47+763del
NM_174878.3:c.433+759_433+763del MANE Select	NP_777367.1:n.433+759_433+763del
NR_046380.3:n.604-304_604-300del