Canonical Allele Identifier: CA2580087761

Linked Data

ClinVar Variation Id: 2043193
ClinVar RCV Id: RCV002908504

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76995850_76995927delinsTAACGGG , CM000675.2:g.76995850_76995927delinsTAACGGG GRCh38
NC_000013.10:g.77569985_77570062delinsTAACGGG , CM000675.1:g.77569985_77570062delinsTAACGGG GRCh37
NC_000013.9:g.76467986_76468063delinsTAACGGG NCBI36
NG_009064.1:g.8927_9004delinsTAACGGG , LRG_692:g.8927_9004delinsTAACGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.340-52_365delinsTAACGGG (CLN5)
ENST00000485938.4:c.340-52_365delinsTAACGGG (CLN5)
ENST00000616833.6:c.340-52_365delinsTAACGGG (CLN5)
ENST00000635905.1:n.341-52_366delinsTAACGGG (CLN5)
ENST00000635915.1:c.286_363delinsTAACGGG (CLN5)
ENST00000635989.1:n.407-52_432delinsTAACGGG (CLN5)
ENST00000636183.2:c.340-52_365delinsTAACGGG (CLN5)
ENST00000636520.1:n.1800_1877delinsTAACGGG (CLN5)
ENST00000636525.2:c.340-52_365delinsTAACGGG (CLN5)
ENST00000636602.1:n.286-52_311delinsTAACGGG (CLN5)
ENST00000636681.1:c.*31-52_*56delinsTAACGGG (CLN5)
ENST00000636705.1:c.176-52_201delinsTAACGGG (CLN5)
ENST00000636767.2:c.340-52_365delinsTAACGGG (CLN5)
ENST00000636780.2:c.340-52_365delinsTAACGGG (CLN5)
ENST00000637278.1:n.614_691delinsTAACGGG (CLN5)
ENST00000637397.2:c.340-52_365delinsTAACGGG (CLN5)
ENST00000637537.2:c.340-52_365delinsTAACGGG (CLN5)
ENST00000638147.2:c.340-52_365delinsTAACGGG
ENST00000377453.7:c.487-52_512delinsTAACGGG (CLN5)
ENST00000485797.2:n.174-2976_174-2899delinsCCCGTTA (FBXL3)
ENST00000485938.2:c.323-52_348delinsTAACGGG (CLN5)
ENST00000616833.4:c.340-52_365delinsTAACGGG (CLN5)
NM_006493.2:c.487-52_512delinsTAACGGG , LRG_692t1:c.487-52_512delinsTAACGGG (CLN5)
XM_011534917.1:c.487-52_512delinsTAACGGG (CLN5)
NM_001366624.1:c.340-52_365delinsTAACGGG (CLN5)
NM_006493.3:c.340-52_365delinsTAACGGG (CLN5)
XM_017020538.2:c.644-2976_644-2899delinsCCCGTTA (FBXL3) XP_016876027.1:n.644-2976_644-2899delinsCCCGTTA
NM_001366624.2:c.340-52_365delinsTAACGGG (CLN5)
NM_006493.4:c.340-52_365delinsTAACGGG (CLN5)