Canonical Allele Identifier: CA2577935544
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972523del , CM000665.2:g.150972523del GRCh38
NC_000003.11:g.150690310del , CM000665.1:g.150690310del GRCh37
NC_000003.10:g.152173000del NCBI36
NG_009168.1:g.5477del , LRG_700:g.5477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.186del MANE Select ENSP00000322280.1:p.Gln62HisfsTer10
ENST00000468836.2:c.162del ENSP00000419892.2:p.Gln54HisfsTer10
ENST00000644099.1:c.27del ENSP00000494762.1:p.Gln9HisfsTer10
ENST00000645441.1:c.28del
ENST00000327047.5:c.186del ENSP00000322280.1:p.Gln62HisfsTer10
ENST00000328863.8:c.186del ENSP00000329158.4:p.Gln62HisfsTer10
ENST00000468836.1:c.-215del ENSP00000419892.1:n.-215del
ENST00000472224.1:n.192del
NM_001195794.1:c.186del , LRG_700t1:c.186del NP_001182723.1:p.Gln62HisfsTer10
NM_001256819.1:c.186del NP_001243748.1:p.Gln62HisfsTer10
NM_174878.2:c.186del NP_777367.1:p.Gln62HisfsTer10
NR_046380.2:n.477del
XR_924167.1:n.498del
NM_001256819.2:c.186del NP_001243748.1:p.Gln62HisfsTer10
NM_174878.3:c.186del MANE Select NP_777367.1:p.Gln62HisfsTer10
NR_046380.3:n.205del