Canonical Allele Identifier: CA2568794156
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150940798_150940816del , CM000665.2:g.150940798_150940816del GRCh38
NC_000003.11:g.150658585_150658603del , CM000665.1:g.150658585_150658603del GRCh37
NC_000003.10:g.152141275_152141293del NCBI36
NG_009168.1:g.37184_37202del , LRG_700:g.37184_37202del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.433+766_433+784del MANE Select ENSP00000322280.1:n.433+766_433+784del
ENST00000468836.2:c.581+766_581+784del ENSP00000419892.2:n.581+766_581+784del
ENST00000644099.1:c.426-297_426-279del ENSP00000494762.1:n.426-297_426-279del
ENST00000295911.6:c.205+766_205+784del ENSP00000295911.2:n.205+766_205+784del
ENST00000327047.5:c.433+766_433+784del ENSP00000322280.1:n.433+766_433+784del
ENST00000328863.8:c.434-297_434-279del ENSP00000329158.4:n.434-297_434-279del
ENST00000468836.1:c.205+766_205+784del ENSP00000419892.1:n.205+766_205+784del
ENST00000485607.1:c.97+766_97+784del ENSP00000419244.1:n.97+766_97+784del
ENST00000562308.5:c.104+766_104+784del
ENST00000565169.1:c.162+766_162+784del
ENST00000569170.5:c.162+766_162+784del
NM_001195794.1:c.434-297_434-279del , LRG_700t1:c.434-297_434-279del NP_001182723.1:n.434-297_434-279del
NM_001256819.1:c.*47+766_*47+784del NP_001243748.1:n.*47+766_*47+784del
NM_052995.2:c.205+766_205+784del , LRG_700t2:c.205+766_205+784del NP_443721.1:n.205+766_205+784del
NM_174878.2:c.433+766_433+784del NP_777367.1:n.433+766_433+784del
NR_046380.2:n.876-297_876-279del
XR_924167.1:n.745+766_745+784del
NM_001256819.2:c.*47+766_*47+784del NP_001243748.1:n.*47+766_*47+784del
NM_174878.3:c.433+766_433+784del MANE Select NP_777367.1:n.433+766_433+784del
NR_046380.3:n.604-297_604-279del