Canonical Allele Identifier: CA2668196902
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926774del , CM000665.2:g.150926774del GRCh38
NC_000003.11:g.150644561del , CM000665.1:g.150644561del GRCh37
NC_000003.10:g.152127251del NCBI36
NG_009168.1:g.51228del , LRG_700:g.51228del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.*1164del MANE Select ENSP00000322280.1:n.*1164del
ENST00000295911.6:c.*80del ENSP00000295911.2:n.*80del
ENST00000327047.5:c.*1164del ENSP00000322280.1:n.*1164del
ENST00000562308.5:c.104+14810del
ENST00000565169.1:c.162+14810del
ENST00000569170.5:c.162+14810del
NM_001195794.1:c.*1164del , LRG_700t1:c.*1164del NP_001182723.1:n.*1164del
NM_001256819.1:c.*1477del NP_001243748.1:n.*1477del
NM_052995.2:c.*80del , LRG_700t2:c.*80del NP_443721.1:n.*80del
NM_174878.2:c.*1164del NP_777367.1:n.*1164del
NR_046380.2:n.2344del
XR_924167.1:n.2175del
NM_001256819.2:c.*1477del NP_001243748.1:n.*1477del
NM_174878.3:c.*1164del MANE Select NP_777367.1:n.*1164del
NR_046380.3:n.2072del