Canonical Allele Identifier: CA263894

Linked Data

ClinVar Variation Id: 56537
ClinVar RCV Id: RCV000049950
dbSNP Id: rs386833973

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76995942_76995943insA , CM000675.2:g.76995942_76995943insA GRCh38
NC_000013.10:g.77570077_77570078insA , CM000675.1:g.77570077_77570078insA GRCh37
NC_000013.9:g.76468078_76468079insA NCBI36
NG_009064.1:g.9019_9020insA , LRG_692:g.9019_9020insA

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.380_381insA (CLN5) MANE Select ENSP00000366673.5:p.Gly128TrpfsTer10
ENST00000485938.4:c.380_381insA (CLN5) ENSP00000482959.3:p.Gly128TrpfsTer10
ENST00000616833.6:c.380_381insA (CLN5) ENSP00000479547.3:p.Gly128TrpfsTer10
ENST00000635905.1:n.381_382insA (CLN5)
ENST00000635915.1:c.378_379insA (CLN5)
ENST00000635989.1:n.447_448insA (CLN5)
ENST00000636183.2:c.380_381insA (CLN5) ENSP00000490181.2:p.Gly128TrpfsTer10
ENST00000636520.1:n.1892_1893insA (CLN5)
ENST00000636525.2:c.380_381insA (CLN5) ENSP00000490078.2:p.Gly128TrpfsTer10
ENST00000636602.1:n.326_327insA (CLN5)
ENST00000636681.1:c.*71_*72insA (CLN5) ENSP00000489922.1:n.*71_*72insA
ENST00000636705.1:c.216_217insA (CLN5)
ENST00000636767.2:c.380_381insA (CLN5) ENSP00000489855.2:p.Gly128TrpfsTer10
ENST00000636780.2:c.380_381insA (CLN5) ENSP00000489809.2:p.Gly128TrpfsTer10
ENST00000637192.1:c.28_29insA
ENST00000637278.1:n.706_707insA (CLN5)
ENST00000637397.2:c.380_381insA (CLN5) ENSP00000490422.2:p.Gly128TrpfsTer10
ENST00000637537.2:c.380_381insA (CLN5) ENSP00000489711.2:p.Gly128TrpfsTer10
ENST00000638147.2:c.380_381insA ENSP00000490953.2:p.Gly128TrpfsTer10
ENST00000377453.7:c.527_528insA (CLN5) ENSP00000366673.3:p.Gly177TrpfsTer10
ENST00000485797.2:n.174-2992_174-2991insT (FBXL3)
ENST00000485938.2:c.363_364insA (CLN5)
ENST00000616833.4:c.380_381insA (CLN5) ENSP00000479547.1:p.Gly128TrpfsTer10
NM_006493.2:c.527_528insA , LRG_692t1:c.527_528insA (CLN5) NP_006484.1:p.Gly177TrpfsTer10
XM_011534917.1:c.527_528insA (CLN5) XP_011533219.1:p.Gly177TrpfsTer10
NM_001366624.1:c.380_381insA (CLN5) NP_001353553.1:p.Gly128TrpfsTer10
NM_006493.3:c.380_381insA (CLN5) NP_006484.2:p.Gly128TrpfsTer10
XM_017020538.2:c.644-2992_644-2991insT (FBXL3) XP_016876027.1:n.644-2992_644-2991insT
NM_001366624.2:c.380_381insA (CLN5) NP_001353553.1:p.Gly128TrpfsTer10
NM_006493.4:c.380_381insA (CLN5) MANE Select NP_006484.2:p.Gly128TrpfsTer10