Canonical Allele Identifier: CA2623304801

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000937_77000938del , CM000675.2:g.77000937_77000938del GRCh38
NC_000013.10:g.77575072_77575073del , CM000675.1:g.77575072_77575073del GRCh37
NC_000013.9:g.76473073_76473074del NCBI36
NG_009064.1:g.14014_14015del , LRG_692:g.14014_14015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.1045_1046del (CLN5) MANE Select ENSP00000366673.5:p.Pro349TyrfsTer?
ENST00000616833.6:c.*487_*488del (CLN5) ENSP00000479547.3:n.*487_*488del
ENST00000635838.1:c.174+4810_174+4811del
ENST00000635905.1:n.566+4810_566+4811del (CLN5)
ENST00000635915.1:c.1043_1044del (CLN5)
ENST00000636183.2:c.1045_1046del (CLN5) ENSP00000490181.2:p.Pro349TyrfsTer?
ENST00000636525.2:c.565+4810_565+4811del (CLN5) ENSP00000490078.2:n.565+4810_565+4811del
ENST00000636681.1:c.*736_*737del (CLN5) ENSP00000489922.1:n.*736_*737del
ENST00000636705.1:c.881_882del (CLN5)
ENST00000636767.2:c.565+4810_565+4811del (CLN5) ENSP00000489855.2:n.565+4810_565+4811del
ENST00000636780.2:c.*494_*495del (CLN5) ENSP00000489809.2:n.*494_*495del
ENST00000637192.1:c.213+4810_213+4811del
ENST00000637278.1:n.1371_1372del (CLN5)
ENST00000637397.2:c.565+4810_565+4811del (CLN5) ENSP00000490422.2:n.565+4810_565+4811del
ENST00000638101.1:c.169+4810_169+4811del ENSP00000490535.1:n.169+4810_169+4811del
ENST00000638147.2:c.565+4810_565+4811del ENSP00000490953.2:n.565+4810_565+4811del
ENST00000377453.7:c.1192_1193del (CLN5) ENSP00000366673.3:p.Pro398TyrfsTer?
ENST00000477982.2:n.1371_1372del (FBXL3)
ENST00000485797.2:n.174-7987_174-7986del (FBXL3)
ENST00000616833.4:c.1045_1046del (CLN5) ENSP00000479547.1:p.Pro349TyrfsTer?
NM_006493.2:c.1192_1193del , LRG_692t1:c.1192_1193del (CLN5) NP_006484.1:p.Pro398TyrfsTer?
NM_001366624.1:c.*494_*495del (CLN5) NP_001353553.1:n.*494_*495del
NM_006493.3:c.1045_1046del (CLN5) NP_006484.2:p.Pro349TyrfsTer?
XM_017020538.2:c.644-7987_644-7986del (FBXL3) XP_016876027.1:n.644-7987_644-7986del
NM_001366624.2:c.*494_*495del (CLN5) NP_001353553.1:n.*494_*495del
NM_006493.4:c.1045_1046del (CLN5) MANE Select NP_006484.2:p.Pro349TyrfsTer?