Canonical Allele Identifier: CA547369148

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 866927
• ClinVar RCV Id: RCV001075319
• dbSNP Id: rs1235835151
• gnomAD v2: 3-150690330-TG-T
• gnomAD v4: 3-150972543-TG-T
• MyVariant Identifiers: chr3:g.150690331del (hg19) ; chr3:g.150972544del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972544del , CM000665.2:g.150972544del	GRCh38
NC_000003.11:g.150690331del , CM000665.1:g.150690331del	GRCh37
NC_000003.10:g.152173021del	NCBI36
NG_009168.1:g.5456del , LRG_700:g.5456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.165del MANE Select	ENSP00000322280.1:p.Asp55GlufsTer17
ENST00000468836.2:c.141del	ENSP00000419892.2:p.Asp47GlufsTer17
ENST00000644099.1:c.6del	ENSP00000494762.1:p.Asp2GlufsTer17
ENST00000645441.1:c.7del
ENST00000327047.5:c.165del	ENSP00000322280.1:p.Asp55GlufsTer17
ENST00000328863.8:c.165del	ENSP00000329158.4:p.Asp55GlufsTer17
ENST00000468836.1:c.-236del	ENSP00000419892.1:n.-236del
ENST00000472224.1:n.171del
NM_001195794.1:c.165del , LRG_700t1:c.165del	NP_001182723.1:p.Asp55GlufsTer17
NM_001256819.1:c.165del	NP_001243748.1:p.Asp55GlufsTer17
NM_174878.2:c.165del	NP_777367.1:p.Asp55GlufsTer17
NR_046380.2:n.456del
XR_924167.1:n.477del
NM_001256819.2:c.165del	NP_001243748.1:p.Asp55GlufsTer17
NM_174878.3:c.165del MANE Select	NP_777367.1:p.Asp55GlufsTer17
NR_046380.3:n.184del