Canonical Allele Identifier: CA16040902
Gene: CLRN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370687
ClinVar RCV Id: RCV000412361
dbSNP Id: rs1057516687
MyVariant Identifiers: chr3:g.150659367dupA (hg19) chr3:g.150659366_150659367insA (hg19) chr3:g.150941580dupA (hg38) chr3:g.150941579_150941580insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150941580dup , CM000665.2:g.150941580dup GRCh38
NC_000003.11:g.150659367dup , CM000665.1:g.150659367dup GRCh37
NC_000003.10:g.152142057dup NCBI36
NG_009168.1:g.36420dup , LRG_700:g.36420dup

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.433+2dup MANE Select ENSP00000322280.1:n.433+2dup
ENST00000468836.2:c.581+2dup ENSP00000419892.2:n.581+2dup
ENST00000644099.1:c.425+2dup ENSP00000494762.1:n.425+2dup
ENST00000295911.6:c.205+2dup ENSP00000295911.2:n.205+2dup
ENST00000327047.5:c.433+2dup ENSP00000322280.1:n.433+2dup
ENST00000328863.8:c.433+2dup ENSP00000329158.4:n.433+2dup
ENST00000468836.1:c.205+2dup ENSP00000419892.1:n.205+2dup
ENST00000472224.1:n.441dup
ENST00000485607.1:c.97+2dup ENSP00000419244.1:n.97+2dup
ENST00000562308.5:c.104+2dup
ENST00000565169.1:c.162+2dup
ENST00000569170.5:c.162+2dup
NM_001195794.1:c.433+2dup , LRG_700t1:c.433+2dup NP_001182723.1:n.433+2dup
NM_001256819.1:c.*47+2dup NP_001243748.1:n.*47+2dup
NM_052995.2:c.205+2dup , LRG_700t2:c.205+2dup NP_443721.1:n.205+2dup
NM_174878.2:c.433+2dup NP_777367.1:n.433+2dup
NR_046380.2:n.875+2dup
XR_924167.1:n.745+2dup
NM_001256819.2:c.*47+2dup NP_001243748.1:n.*47+2dup
NM_174878.3:c.433+2dup MANE Select NP_777367.1:n.433+2dup
NR_046380.3:n.603+2dup
Search 100 bp 5'
Search 100 bp 3'