Canonical Allele Identifier: CA199085
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928138dup , CM000665.2:g.150928138dup GRCh38
NC_000003.11:g.150645925dup , CM000665.1:g.150645925dup GRCh37
NC_000003.10:g.152128615dup NCBI36
NG_009168.1:g.49867dup , LRG_700:g.49867dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.502dup MANE Select ENSP00000322280.1:p.Ile168AsnfsTer5
ENST00000468836.2:c.650dup ENSP00000419892.2:n.650dup
ENST00000295911.6:c.274dup ENSP00000295911.2:p.Ile92AsnfsTer5
ENST00000327047.5:c.502dup ENSP00000322280.1:p.Ile168AsnfsTer5
ENST00000328863.8:c.541dup ENSP00000329158.4:p.Ile181AsnfsTer5
ENST00000468836.1:c.274dup ENSP00000419892.1:p.Ile92AsnfsTer5
ENST00000562308.5:c.104+13449dup
ENST00000565169.1:c.162+13449dup
ENST00000569170.5:c.162+13449dup
NM_001195794.1:c.541dup , LRG_700t1:c.541dup NP_001182723.1:p.Ile181AsnfsTer5
NM_001256819.1:c.*116dup NP_001243748.1:n.*116dup
NM_052995.2:c.274dup , LRG_700t2:c.274dup NP_443721.1:p.Ile92AsnfsTer5
NM_174878.2:c.502dup NP_777367.1:p.Ile168AsnfsTer5
NR_046380.2:n.983dup
XR_924167.1:n.814dup
NM_001256819.2:c.*116dup NP_001243748.1:n.*116dup
NM_174878.3:c.502dup MANE Select NP_777367.1:p.Ile168AsnfsTer5
NR_046380.3:n.711dup