Canonical Allele Identifier: CA263879

Linked Data

ClinVar Variation Id: 56529
dbSNP Id: rs386833967

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000848_77000851del , CM000675.2:g.77000848_77000851del GRCh38
NC_000013.10:g.77574983_77574986del , CM000675.1:g.77574983_77574986del GRCh37
NC_000013.9:g.76472984_76472987del NCBI36
NG_009064.1:g.13925_13928del , LRG_692:g.13925_13928del

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.956_959del (CLN5) MANE Select ENSP00000366673.5:p.Lys319SerfsTer15
ENST00000616833.6:c.*398_*401del (CLN5) ENSP00000479547.3:n.*398_*401del
ENST00000635838.1:c.174+4721_174+4724del
ENST00000635905.1:n.566+4721_566+4724del (CLN5)
ENST00000635915.1:c.954_957del (CLN5)
ENST00000636183.2:c.956_959del (CLN5) ENSP00000490181.2:p.Lys319SerfsTer15
ENST00000636525.2:c.565+4721_565+4724del (CLN5) ENSP00000490078.2:n.565+4721_565+4724del
ENST00000636681.1:c.*647_*650del (CLN5) ENSP00000489922.1:n.*647_*650del
ENST00000636705.1:c.792_795del (CLN5)
ENST00000636767.2:c.565+4721_565+4724del (CLN5) ENSP00000489855.2:n.565+4721_565+4724del
ENST00000636780.2:c.*405_*408del (CLN5) ENSP00000489809.2:n.*405_*408del
ENST00000637192.1:c.213+4721_213+4724del
ENST00000637278.1:n.1282_1285del (CLN5)
ENST00000637397.2:c.565+4721_565+4724del (CLN5) ENSP00000490422.2:n.565+4721_565+4724del
ENST00000638101.1:c.169+4721_169+4724del ENSP00000490535.1:n.169+4721_169+4724del
ENST00000638147.2:c.565+4721_565+4724del ENSP00000490953.2:n.565+4721_565+4724del
ENST00000377453.7:c.1103_1106del (CLN5) ENSP00000366673.3:p.Lys368SerfsTer15
ENST00000477982.2:n.1461_1464del (FBXL3)
ENST00000485797.2:n.174-7897_174-7894del (FBXL3)
ENST00000616833.4:c.956_959del (CLN5) ENSP00000479547.1:p.Lys319SerfsTer15
NM_006493.2:c.1103_1106del , LRG_692t1:c.1103_1106del (CLN5) NP_006484.1:p.Lys368SerfsTer15
NM_001366624.1:c.*405_*408del (CLN5) NP_001353553.1:n.*405_*408del
NM_006493.3:c.956_959del (CLN5) NP_006484.2:p.Lys319SerfsTer15
XM_017020538.2:c.644-7897_644-7894del (FBXL3) XP_016876027.1:n.644-7897_644-7894del
NM_001366624.2:c.*405_*408del (CLN5) NP_001353553.1:n.*405_*408del
NM_006493.4:c.956_959del (CLN5) MANE Select NP_006484.2:p.Lys319SerfsTer15