Canonical Allele Identifier: CA16041685
Gene: CLN5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76992171_76992172delinsG , CM000675.2:g.76992171_76992172delinsG GRCh38
NC_000013.10:g.77566306_77566307delinsG , CM000675.1:g.77566306_77566307delinsG GRCh37
NC_000013.9:g.76464307_76464308delinsG NCBI36
NG_009064.1:g.5248_5249delinsG , LRG_692:g.5248_5249delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.73_74delinsG MANE Select ENSP00000366673.5:p.Ser25AlafsTer?
ENST00000485938.4:c.73_74delinsG ENSP00000482959.3:p.Ser25AlafsTer?
ENST00000616833.6:c.73_74delinsG ENSP00000479547.3:p.Ser25AlafsTer?
ENST00000635905.1:n.74_75delinsG
ENST00000635915.1:c.12_13delinsG
ENST00000635989.1:n.83_84delinsG
ENST00000636183.2:c.73_74delinsG ENSP00000490181.2:p.Ser25AlafsTer?
ENST00000636525.2:c.73_74delinsG ENSP00000490078.2:p.Ser25AlafsTer?
ENST00000636767.2:c.73_74delinsG ENSP00000489855.2:p.Ser25AlafsTer?
ENST00000636780.2:c.73_74delinsG ENSP00000489809.2:p.Ser25AlafsTer?
ENST00000637397.2:c.73_74delinsG ENSP00000490422.2:p.Ser25AlafsTer?
ENST00000637537.2:c.73_74delinsG ENSP00000489711.2:p.Ser25AlafsTer?
ENST00000638147.2:c.73_74delinsG ENSP00000490953.2:p.Ser25AlafsTer?
ENST00000377453.7:c.220_221delinsG ENSP00000366673.3:p.Ser74AlafsTer?
ENST00000485938.2:c.56_57delinsG
ENST00000616833.4:c.73_74delinsG ENSP00000479547.1:p.Ser25AlafsTer?
NM_006493.2:c.220_221delinsG , LRG_692t1:c.220_221delinsG NP_006484.1:p.Ser74AlafsTer?
XM_011534917.1:c.220_221delinsG XP_011533219.1:p.Ser74AlafsTer?
NM_001366624.1:c.73_74delinsG NP_001353553.1:p.Ser25AlafsTer?
NM_006493.3:c.73_74delinsG NP_006484.2:p.Ser25AlafsTer?
NM_001366624.2:c.73_74delinsG NP_001353553.1:p.Ser25AlafsTer?
NM_006493.4:c.73_74delinsG MANE Select NP_006484.2:p.Ser25AlafsTer?
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