Canonical Allele Identifier: CA2499216560

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1073695
• ClinVar RCV Id: RCV001386767
• dbSNP Id: rs2107951359

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941724del , CM000665.2:g.150941724del	GRCh38
NC_000003.11:g.150659511del , CM000665.1:g.150659511del	GRCh37
NC_000003.10:g.152142201del	NCBI36
NG_009168.1:g.36277del , LRG_700:g.36277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.292del MANE Select	ENSP00000322280.1:p.His98ThrfsTer14
ENST00000468836.2:c.440del	ENSP00000419892.2:p.Pro147HisfsTer?
ENST00000644099.1:c.284del	ENSP00000494762.1:n.284del
ENST00000295911.6:c.64del	ENSP00000295911.2:p.His22ThrfsTer14
ENST00000327047.5:c.292del	ENSP00000322280.1:p.His98ThrfsTer14
ENST00000328863.8:c.292del	ENSP00000329158.4:p.His98ThrfsTer14
ENST00000468836.1:c.64del	ENSP00000419892.1:p.His22ThrfsTer14
ENST00000472224.1:n.298del
ENST00000485607.1:c.-45del	ENSP00000419244.1:n.-45del
ENST00000565169.1:c.21del
ENST00000569170.5:c.21del
NM_001195794.1:c.292del , LRG_700t1:c.292del	NP_001182723.1:p.His98ThrfsTer14
NM_001256819.1:c.464del	NP_001243748.1:p.Pro155HisfsTer?
NM_052995.2:c.64del , LRG_700t2:c.64del	NP_443721.1:p.His22ThrfsTer14
NM_174878.2:c.292del	NP_777367.1:p.His98ThrfsTer14
NR_046380.2:n.734del
XR_924167.1:n.604del
NM_001256819.2:c.464del	NP_001243748.1:p.Pro155HisfsTer?
NM_174878.3:c.292del MANE Select	NP_777367.1:p.His98ThrfsTer14
NR_046380.3:n.462del