Canonical Allele Identifier: CA915941604

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 812272
• ClinVar RCV Id: RCV001002951
• dbSNP Id: rs1576631624

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941659_150941668del , CM000665.2:g.150941659_150941668del	GRCh38
NC_000003.11:g.150659446_150659455del , CM000665.1:g.150659446_150659455del	GRCh37
NC_000003.10:g.152142136_152142145del	NCBI36
NG_009168.1:g.36334_36343del , LRG_700:g.36334_36343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.349_358del MANE Select	ENSP00000322280.1:p.Ala117CysfsTer16
ENST00000468836.2:c.497_506del	ENSP00000419892.2:p.Ser166MetfsTer?
ENST00000644099.1:c.341_350del	ENSP00000494762.1:n.341_350del
ENST00000295911.6:c.121_130del	ENSP00000295911.2:p.Ala41CysfsTer16
ENST00000327047.5:c.349_358del	ENSP00000322280.1:p.Ala117CysfsTer16
ENST00000328863.8:c.349_358del	ENSP00000329158.4:p.Ala117CysfsTer16
ENST00000468836.1:c.121_130del	ENSP00000419892.1:p.Ala41CysfsTer16
ENST00000472224.1:n.355_364del
ENST00000485607.1:c.13_22del	ENSP00000419244.1:p.Ala5CysfsTer16
ENST00000562308.5:c.20_29del
ENST00000565169.1:c.78_87del
ENST00000569170.5:c.78_87del
NM_001195794.1:c.349_358del , LRG_700t1:c.349_358del	NP_001182723.1:p.Ala117CysfsTer16
NM_001256819.1:c.521_530del	NP_001243748.1:p.Ser174MetfsTer?
NM_052995.2:c.121_130del , LRG_700t2:c.121_130del	NP_443721.1:p.Ala41CysfsTer16
NM_174878.2:c.349_358del	NP_777367.1:p.Ala117CysfsTer16
NR_046380.2:n.791_800del
XR_924167.1:n.661_670del
NM_001256819.2:c.521_530del	NP_001243748.1:p.Ser174MetfsTer?
NM_174878.3:c.349_358del MANE Select	NP_777367.1:p.Ala117CysfsTer16
NR_046380.3:n.519_528del