Canonical Allele Identifier: CA2668197595

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150940561-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940562_150940563del , CM000665.2:g.150940562_150940563del	GRCh38
NC_000003.11:g.150658349_150658350del , CM000665.1:g.150658349_150658350del	GRCh37
NC_000003.10:g.152141039_152141040del	NCBI36
NG_009168.1:g.37437_37438del , LRG_700:g.37437_37438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1019_433+1020del MANE Select	ENSP00000322280.1:n.433+1019_433+1020del
ENST00000468836.2:c.581+1019_581+1020del	ENSP00000419892.2:n.581+1019_581+1020del
ENST00000644099.1:c.426-44_426-43del	ENSP00000494762.1:n.426-44_426-43del
ENST00000295911.6:c.205+1019_205+1020del	ENSP00000295911.2:n.205+1019_205+1020del
ENST00000327047.5:c.433+1019_433+1020del	ENSP00000322280.1:n.433+1019_433+1020del
ENST00000328863.8:c.434-44_434-43del	ENSP00000329158.4:n.434-44_434-43del
ENST00000468836.1:c.205+1019_205+1020del	ENSP00000419892.1:n.205+1019_205+1020del
ENST00000485607.1:c.97+1019_97+1020del	ENSP00000419244.1:n.97+1019_97+1020del
ENST00000562308.5:c.104+1019_104+1020del
ENST00000565169.1:c.162+1019_162+1020del
ENST00000569170.5:c.162+1019_162+1020del
NM_001195794.1:c.434-44_434-43del , LRG_700t1:c.434-44_434-43del	NP_001182723.1:n.434-44_434-43del
NM_001256819.1:c.*47+1019_*47+1020del	NP_001243748.1:n.*47+1019_*47+1020del
NM_052995.2:c.205+1019_205+1020del , LRG_700t2:c.205+1019_205+1020del	NP_443721.1:n.205+1019_205+1020del
NM_174878.2:c.433+1019_433+1020del	NP_777367.1:n.433+1019_433+1020del
NR_046380.2:n.876-44_876-43del
XR_924167.1:n.745+1019_745+1020del
NM_001256819.2:c.*47+1019_*47+1020del	NP_001243748.1:n.*47+1019_*47+1020del
NM_174878.3:c.433+1019_433+1020del MANE Select	NP_777367.1:n.433+1019_433+1020del
NR_046380.3:n.604-44_604-43del