Canonical Allele Identifier: CA2665936
Gene: CLRN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 343809
ClinVar RCV Id: RCV000291402 RCV000376478 RCV001594980
dbSNP Id: rs34027634
ExAC: 3:150645418 TAC / T
gnomAD v2: 3-150645418-TAC-T
gnomAD v3: 3-150927631-TAC-T
gnomAD v4: 3-150927631-TAC-T
COSMIC: COSN20099232 COSN20099233 COSN20099234
MyVariant Identifiers: chr3:g.150645433_150645434del (hg19) chr3:g.150645423_150645424del (hg19) chr3:g.150645421_150645422del (hg19) chr3:g.150645419_150645420del (hg19) chr3:g.150927646_150927647del (hg38) chr3:g.150927636_150927637del (hg38) chr3:g.150927632_150927633del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150927659_150927660del , CM000665.2:g.150927659_150927660del GRCh38
NC_000003.11:g.150645446_150645447del , CM000665.1:g.150645446_150645447del GRCh37
NC_000003.10:g.152128136_152128137del NCBI36
NG_009168.1:g.50367_50368del , LRG_700:g.50367_50368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.*303_*304del MANE Select ENSP00000322280.1:n.*303_*304del
ENST00000295911.6:c.342+432_342+433del ENSP00000295911.2:n.342+432_342+433del
ENST00000327047.5:c.*303_*304del ENSP00000322280.1:n.*303_*304del
ENST00000562308.5:c.104+13949_104+13950del
ENST00000565169.1:c.162+13949_162+13950del
ENST00000569170.5:c.162+13949_162+13950del
NM_001195794.1:c.*303_*304del , LRG_700t1:c.*303_*304del NP_001182723.1:n.*303_*304del
NM_001256819.1:c.*616_*617del NP_001243748.1:n.*616_*617del
NM_052995.2:c.342+432_342+433del , LRG_700t2:c.342+432_342+433del NP_443721.1:n.342+432_342+433del
NM_174878.2:c.*303_*304del NP_777367.1:n.*303_*304del
NR_046380.2:n.1483_1484del
XR_924167.1:n.1314_1315del
NM_001256819.2:c.*616_*617del NP_001243748.1:n.*616_*617del
NM_174878.3:c.*303_*304del MANE Select NP_777367.1:n.*303_*304del
NR_046380.3:n.1211_1212del
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