Canonical Allele Identifier: CA645294029
Gene: CLRN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4394
ClinVar RCV Id: RCV000004644
dbSNP Id: rs1085307049

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928175_150928177del , CM000665.2:g.150928175_150928177del GRCh38
NC_000003.11:g.150645962_150645964del , CM000665.1:g.150645962_150645964del GRCh37
NC_000003.10:g.152128652_152128654del NCBI36
NG_009168.1:g.49824_49826del , LRG_700:g.49824_49826del

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.459_461del MANE Select ENSP00000322280.1:p.Ile153_Leu154delinsMe...
ENST00000468836.2:c.607_609del ENSP00000419892.2:n.607_609del
ENST00000295911.6:c.231_233del ENSP00000295911.2:p.Ile77_Leu78delinsMet
ENST00000327047.5:c.459_461del ENSP00000322280.1:p.Ile153_Leu154delinsMe...
ENST00000328863.8:c.498_500del ENSP00000329158.4:p.Ile166_Leu167delinsMe...
ENST00000468836.1:c.231_233del ENSP00000419892.1:p.Ile77_Leu78delinsMet
ENST00000562308.5:c.104+13406_104+13408del
ENST00000565169.1:c.162+13406_162+13408del
ENST00000569170.5:c.162+13406_162+13408del
NM_001195794.1:c.498_500del , LRG_700t1:c.498_500del NP_001182723.1:p.Ile166_Leu167delinsMet
NM_001256819.1:c.*73_*75del NP_001243748.1:n.*73_*75del
NM_052995.2:c.231_233del , LRG_700t2:c.231_233del NP_443721.1:p.Ile77_Leu78delinsMet
NM_174878.2:c.459_461del NP_777367.1:p.Ile153_Leu154delinsMet
NR_046380.2:n.940_942del
XR_924167.1:n.771_773del
NM_001256819.2:c.*73_*75del NP_001243748.1:n.*73_*75del
NM_174878.3:c.459_461del MANE Select NP_777367.1:p.Ile153_Leu154delinsMet
NR_046380.3:n.668_670del