Canonical Allele Identifier: CA645294030

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 4398
• ClinVar RCV Id: RCV000004648
• dbSNP Id: rs1553776036
• MyVariant Identifiers: chr3:g.150690286_150690308del (hg19) ; chr3:g.150972499_150972521del (hg38)
• PubMed: PMID:12080385

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972501_150972523del , CM000665.2:g.150972501_150972523del	GRCh38
NC_000003.11:g.150690288_150690310del , CM000665.1:g.150690288_150690310del	GRCh37
NC_000003.10:g.152172978_152173000del	NCBI36
NG_009168.1:g.5479_5501del , LRG_700:g.5479_5501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.188_210del MANE Select	ENSP00000322280.1:p.Tyr63CysfsTer?
ENST00000468836.2:c.164_186del	ENSP00000419892.2:p.Tyr55CysfsTer19
ENST00000644099.1:c.29_51del	ENSP00000494762.1:p.Tyr10CysfsTer16
ENST00000645441.1:c.30_52del
ENST00000327047.5:c.188_210del	ENSP00000322280.1:p.Tyr63CysfsTer?
ENST00000328863.8:c.188_210del	ENSP00000329158.4:p.Tyr63CysfsTer?
ENST00000468836.1:c.-213_-191del	ENSP00000419892.1:n.-213_-191del
ENST00000472224.1:n.194_216del
NM_001195794.1:c.188_210del , LRG_700t1:c.188_210del	NP_001182723.1:p.Tyr63CysfsTer?
NM_001256819.1:c.188_210del	NP_001243748.1:p.Tyr63CysfsTer19
NM_174878.2:c.188_210del	NP_777367.1:p.Tyr63CysfsTer?
NR_046380.2:n.479_501del
XR_924167.1:n.500_522del
NM_001256819.2:c.188_210del	NP_001243748.1:p.Tyr63CysfsTer19
NM_174878.3:c.188_210del MANE Select	NP_777367.1:p.Tyr63CysfsTer?
NR_046380.3:n.207_229del