Canonical Allele Identifier: CA199044

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 188726
• ClinVar RCV Id: RCV000169027 ; RCV000478734 ; RCV000844691 ; RCV001073424
• dbSNP Id: rs786204428
• MyVariant Identifiers: chr3:g.150690344_150690347delinsATTGGACA (hg19) ; chr3:g.150972557_150972560delinsATTGGACA (hg38)
• PubMed: PMID:12145752 ; PMID:16963483 ; PMID:17893653 ; PMID:18273898 ; PMID:22135276

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972557_150972560delinsATTGGACA , CM000665.2:g.150972557_150972560delinsATTGGACA	GRCh38
NC_000003.11:g.150690344_150690347delinsATTGGACA , CM000665.1:g.150690344_150690347delinsATTGGACA	GRCh37
NC_000003.10:g.152173034_152173037delinsATTGGACA	NCBI36
NG_009168.1:g.5440_5443delinsTGTCCAAT , LRG_700:g.5440_5443delinsTGTCCAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.149_152delinsTGTCCAAT MANE Select	ENSP00000322280.1:p.Ser50LeufsTer12
ENST00000468836.2:c.125_128delinsTGTCCAAT	ENSP00000419892.2:p.Ser42LeufsTer12
ENST00000327047.5:c.149_152delinsTGTCCAAT	ENSP00000322280.1:p.Ser50LeufsTer12
ENST00000328863.8:c.149_152delinsTGTCCAAT	ENSP00000329158.4:p.Ser50LeufsTer12
ENST00000468836.1:c.-252_-249delinsTGTCCAAT	ENSP00000419892.1:n.-252_-249delinsTGTCCA...
ENST00000472224.1:n.155_158delinsTGTCCAAT
NM_001195794.1:c.149_152delinsTGTCCAAT , LRG_700t1:c.149_152delinsTGTCCAAT	NP_001182723.1:p.Ser50LeufsTer12
NM_001256819.1:c.149_152delinsTGTCCAAT	NP_001243748.1:p.Ser50LeufsTer12
NM_174878.2:c.149_152delinsTGTCCAAT	NP_777367.1:p.Ser50LeufsTer12
NR_046380.2:n.440_443delinsTGTCCAAT
XR_924167.1:n.461_464delinsTGTCCAAT
NM_001256819.2:c.149_152delinsTGTCCAAT	NP_001243748.1:p.Ser50LeufsTer12
NM_174878.3:c.149_152delinsTGTCCAAT MANE Select	NP_777367.1:p.Ser50LeufsTer12
NR_046380.3:n.168_171delinsTGTCCAAT