Canonical Allele Identifier: CA2666225

Gene: CLRN1 CLRN1-AS1

Linked Data

• ClinVar Variation Id: 1075882
• ClinVar RCV Id: RCV001389583 ; RCV003469761
• dbSNP Id: rs752910161
• ExAC: 3:150690464 C / CA
• gnomAD v2: 3-150690464-C-CA
• gnomAD v3: 3-150972677-C-CA
• gnomAD v4: 3-150972677-C-CA
• MyVariant Identifiers: chr3:g.150690464_150690465insA (hg19) ; chr3:g.150972677_150972678insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972683dup , CM000665.2:g.150972683dup	GRCh38
NC_000003.11:g.150690470dup , CM000665.1:g.150690470dup	GRCh37
NC_000003.10:g.152173160dup	NCBI36
NG_009168.1:g.5322dup , LRG_700:g.5322dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.31dup (CLRN1) MANE Select	ENSP00000322280.1:p.Cys11LeufsTer?
ENST00000468836.2:c.7dup (CLRN1)	ENSP00000419892.2:p.Cys3LeufsTer?
ENST00000327047.5:c.31dup (CLRN1)	ENSP00000322280.1:p.Cys11LeufsTer?
ENST00000328863.8:c.31dup (CLRN1)	ENSP00000329158.4:p.Cys11LeufsTer?
ENST00000468836.1:c.-370dup (CLRN1)	ENSP00000419892.1:n.-370dup
ENST00000472224.1:n.37dup (CLRN1)
NM_001195794.1:c.31dup , LRG_700t1:c.31dup (CLRN1)	NP_001182723.1:p.Cys11LeufsTer?
NM_001256819.1:c.31dup (CLRN1)	NP_001243748.1:p.Cys11LeufsTer?
NM_174878.2:c.31dup (CLRN1)	NP_777367.1:p.Cys11LeufsTer?
NR_024066.1:n.6dup (CLRN1-AS1)
NR_046380.2:n.322dup (CLRN1)
XR_924167.1:n.343dup (CLRN1)
NR_024066.2:n.6dup (CLRN1-AS1)
NM_001256819.2:c.31dup (CLRN1)	NP_001243748.1:p.Cys11LeufsTer?
NM_174878.3:c.31dup (CLRN1) MANE Select	NP_777367.1:p.Cys11LeufsTer?
NR_046380.3:n.50dup (CLRN1)