Canonical Allele Identifier: CA252176660

Linked Data

dbSNP Id: rs1029708030

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76996436_76996437del , CM000675.2:g.76996436_76996437del GRCh38
NC_000013.10:g.77570571_77570572del , CM000675.1:g.77570571_77570572del GRCh37
NC_000013.9:g.76468572_76468573del NCBI36
NG_009064.1:g.9513_9514del , LRG_692:g.9513_9514del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.565+309_565+310del (CLN5) MANE Select ENSP00000366673.5:n.565+309_565+310del
ENST00000485938.4:c.*298_*299del (CLN5) ENSP00000482959.3:n.*298_*299del
ENST00000616833.6:c.565+309_565+310del (CLN5) ENSP00000479547.3:n.565+309_565+310del
ENST00000635838.1:c.174+309_174+310del
ENST00000635905.1:n.566+309_566+310del (CLN5)
ENST00000635915.1:c.563+309_563+310del (CLN5)
ENST00000636183.2:c.565+309_565+310del (CLN5) ENSP00000490181.2:n.565+309_565+310del
ENST00000636520.1:n.2386_2387del (CLN5)
ENST00000636525.2:c.565+309_565+310del (CLN5) ENSP00000490078.2:n.565+309_565+310del
ENST00000636681.1:c.*256+309_*256+310del (CLN5) ENSP00000489922.1:n.*256+309_*256+310del
ENST00000636705.1:c.401+309_401+310del (CLN5)
ENST00000636767.2:c.565+309_565+310del (CLN5) ENSP00000489855.2:n.565+309_565+310del
ENST00000636780.2:c.565+309_565+310del (CLN5) ENSP00000489809.2:n.565+309_565+310del
ENST00000637192.1:c.213+309_213+310del
ENST00000637278.1:n.891+309_891+310del (CLN5)
ENST00000637397.2:c.565+309_565+310del (CLN5) ENSP00000490422.2:n.565+309_565+310del
ENST00000637537.2:c.565+309_565+310del (CLN5) ENSP00000489711.2:n.565+309_565+310del
ENST00000638101.1:c.169+309_169+310del ENSP00000490535.1:n.169+309_169+310del
ENST00000638147.2:c.565+309_565+310del ENSP00000490953.2:n.565+309_565+310del
ENST00000377453.7:c.712+309_712+310del (CLN5) ENSP00000366673.3:n.712+309_712+310del
ENST00000485797.2:n.174-3484_174-3483del (FBXL3)
ENST00000616833.4:c.565+309_565+310del (CLN5) ENSP00000479547.1:n.565+309_565+310del
NM_006493.2:c.712+309_712+310del , LRG_692t1:c.712+309_712+310del (CLN5) NP_006484.1:n.712+309_712+310del
XM_011534917.1:c.712+309_712+310del (CLN5) XP_011533219.1:n.712+309_712+310del
NM_001366624.1:c.565+309_565+310del (CLN5) NP_001353553.1:n.565+309_565+310del
NM_006493.3:c.565+309_565+310del (CLN5) NP_006484.2:n.565+309_565+310del
XM_017020538.2:c.644-3484_644-3483del (FBXL3) XP_016876027.1:n.644-3484_644-3483del
NM_001366624.2:c.565+309_565+310del (CLN5) NP_001353553.1:n.565+309_565+310del
NM_006493.4:c.565+309_565+310del (CLN5) MANE Select NP_006484.2:n.565+309_565+310del