Canonical Allele Identifier: CA2666211

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 651716
• ClinVar RCV Id: RCV000807133
• dbSNP Id: rs767882032
• ExAC: 3:150690359 A / AGCAGAGCTCCCGTTTT
• gnomAD v2: 3-150690359-A-AGCAGAGCTCCCGTTTT
• gnomAD v4: 3-150972572-A-AGCAGAGCTCCCGTTTT
• MyVariant Identifiers: chr3:g.150690359_150690360insGCAGAGCTCCCGTTTT (hg19) ; chr3:g.150972572_150972573insGCAGAGCTCCCGTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972579_150972594dup , CM000665.2:g.150972579_150972594dup	GRCh38
NC_000003.11:g.150690366_150690381dup , CM000665.1:g.150690366_150690381dup	GRCh37
NC_000003.10:g.152173056_152173071dup	NCBI36
NG_009168.1:g.5412_5427dup , LRG_700:g.5412_5427dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.121_136dup MANE Select	ENSP00000322280.1:p.Leu46GlnfsTer20
ENST00000468836.2:c.97_112dup	ENSP00000419892.2:p.Leu38GlnfsTer20
ENST00000327047.5:c.121_136dup	ENSP00000322280.1:p.Leu46GlnfsTer20
ENST00000328863.8:c.121_136dup	ENSP00000329158.4:p.Leu46GlnfsTer20
ENST00000468836.1:c.-280_-265dup	ENSP00000419892.1:n.-280_-265dup
ENST00000472224.1:n.127_142dup
NM_001195794.1:c.121_136dup , LRG_700t1:c.121_136dup	NP_001182723.1:p.Leu46GlnfsTer20
NM_001256819.1:c.121_136dup	NP_001243748.1:p.Leu46GlnfsTer20
NM_174878.2:c.121_136dup	NP_777367.1:p.Leu46GlnfsTer20
NR_046380.2:n.412_427dup
XR_924167.1:n.433_448dup
NM_001256819.2:c.121_136dup	NP_001243748.1:p.Leu46GlnfsTer20
NM_174878.3:c.121_136dup MANE Select	NP_777367.1:p.Leu46GlnfsTer20
NR_046380.3:n.140_155dup