Canonical Allele Identifier: CA2665937
Gene: CLRN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 343807
ClinVar RCV Id: RCV000316048 RCV000379991 RCV001594979
dbSNP Id: rs34027634
ExAC: 3:150645418 T / TAC
gnomAD v2: 3-150645418-T-TAC
gnomAD v3: 3-150927631-T-TAC
gnomAD v4: 3-150927631-T-TAC
MyVariant Identifiers: chr3:g.150645419_150645420dupAC (hg19) chr3:g.150645434_150645435insAC (hg19) chr3:g.150645424_150645425insAC (hg19) chr3:g.150645422_150645423insAC (hg19) chr3:g.150645418_150645419insAC (hg19) chr3:g.150927632_150927633dupAC (hg38) chr3:g.150927647_150927648insAC (hg38) chr3:g.150927637_150927638insAC (hg38) chr3:g.150927631_150927632insAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150927659_150927660dup , CM000665.2:g.150927659_150927660dup GRCh38
NC_000003.11:g.150645446_150645447dup , CM000665.1:g.150645446_150645447dup GRCh37
NC_000003.10:g.152128136_152128137dup NCBI36
NG_009168.1:g.50367_50368dup , LRG_700:g.50367_50368dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.*303_*304dup MANE Select ENSP00000322280.1:n.*303_*304dup
ENST00000295911.6:c.342+432_342+433dup ENSP00000295911.2:n.342+432_342+433dup
ENST00000327047.5:c.*303_*304dup ENSP00000322280.1:n.*303_*304dup
ENST00000562308.5:c.104+13949_104+13950dup
ENST00000565169.1:c.162+13949_162+13950dup
ENST00000569170.5:c.162+13949_162+13950dup
NM_001195794.1:c.*303_*304dup , LRG_700t1:c.*303_*304dup NP_001182723.1:n.*303_*304dup
NM_001256819.1:c.*616_*617dup NP_001243748.1:n.*616_*617dup
NM_052995.2:c.342+432_342+433dup , LRG_700t2:c.342+432_342+433dup NP_443721.1:n.342+432_342+433dup
NM_174878.2:c.*303_*304dup NP_777367.1:n.*303_*304dup
NR_046380.2:n.1483_1484dup
XR_924167.1:n.1314_1315dup
NM_001256819.2:c.*616_*617dup NP_001243748.1:n.*616_*617dup
NM_174878.3:c.*303_*304dup MANE Select NP_777367.1:n.*303_*304dup
NR_046380.3:n.1211_1212dup
Search 100 bp 5'
Search 100 bp 3'