Canonical Allele Identifier: CA2758898238

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940543_150940559del , CM000665.2:g.150940543_150940559del	GRCh38
NC_000003.11:g.150658330_150658346del , CM000665.1:g.150658330_150658346del	GRCh37
NC_000003.10:g.152141020_152141036del	NCBI36
NG_009168.1:g.37441_37457del , LRG_700:g.37441_37457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1023_433+1039del MANE Select	ENSP00000322280.1:n.433+1023_433+1039del
ENST00000468836.2:c.581+1023_581+1039del	ENSP00000419892.2:n.581+1023_581+1039del
ENST00000644099.1:c.426-40_426-24del	ENSP00000494762.1:n.426-40_426-24del
ENST00000295911.6:c.205+1023_205+1039del	ENSP00000295911.2:n.205+1023_205+1039del
ENST00000327047.5:c.433+1023_433+1039del	ENSP00000322280.1:n.433+1023_433+1039del
ENST00000328863.8:c.434-40_434-24del	ENSP00000329158.4:n.434-40_434-24del
ENST00000468836.1:c.205+1023_205+1039del	ENSP00000419892.1:n.205+1023_205+1039del
ENST00000485607.1:c.97+1023_97+1039del	ENSP00000419244.1:n.97+1023_97+1039del
ENST00000562308.5:c.104+1023_104+1039del
ENST00000565169.1:c.162+1023_162+1039del
ENST00000569170.5:c.162+1023_162+1039del
NM_001195794.1:c.434-40_434-24del , LRG_700t1:c.434-40_434-24del	NP_001182723.1:n.434-40_434-24del
NM_001256819.1:c.*47+1023_*47+1039del	NP_001243748.1:n.*47+1023_*47+1039del
NM_052995.2:c.205+1023_205+1039del , LRG_700t2:c.205+1023_205+1039del	NP_443721.1:n.205+1023_205+1039del
NM_174878.2:c.433+1023_433+1039del	NP_777367.1:n.433+1023_433+1039del
NR_046380.2:n.876-40_876-24del
XR_924167.1:n.745+1023_745+1039del
NM_001256819.2:c.*47+1023_*47+1039del	NP_001243748.1:n.*47+1023_*47+1039del
NM_174878.3:c.433+1023_433+1039del MANE Select	NP_777367.1:n.433+1023_433+1039del
NR_046380.3:n.604-40_604-24del