Canonical Allele Identifier: CA912974898

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000605_77000613del , CM000675.2:g.77000605_77000613del GRCh38
NC_000013.10:g.77574740_77574748del , CM000675.1:g.77574740_77574748del GRCh37
NC_000013.9:g.76472741_76472749del NCBI36
NG_009064.1:g.13682_13690del , LRG_692:g.13682_13690del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.713_721del (CLN5) MANE Select ENSP00000366673.5:p.Thr238_Asn240del
ENST00000616833.6:c.*155_*163del (CLN5) ENSP00000479547.3:n.*155_*163del
ENST00000635838.1:c.174+4478_174+4486del
ENST00000635905.1:n.566+4478_566+4486del (CLN5)
ENST00000635915.1:c.711_719del (CLN5)
ENST00000636183.2:c.713_721del (CLN5) ENSP00000490181.2:p.Thr238_Asn240del
ENST00000636525.2:c.565+4478_565+4486del (CLN5) ENSP00000490078.2:n.565+4478_565+4486del
ENST00000636681.1:c.*404_*412del (CLN5) ENSP00000489922.1:n.*404_*412del
ENST00000636705.1:c.549_557del (CLN5)
ENST00000636767.2:c.565+4478_565+4486del (CLN5) ENSP00000489855.2:n.565+4478_565+4486del
ENST00000636780.2:c.*162_*170del (CLN5) ENSP00000489809.2:n.*162_*170del
ENST00000637192.1:c.213+4478_213+4486del
ENST00000637278.1:n.1039_1047del (CLN5)
ENST00000637397.2:c.565+4478_565+4486del (CLN5) ENSP00000490422.2:n.565+4478_565+4486del
ENST00000638101.1:c.169+4478_169+4486del ENSP00000490535.1:n.169+4478_169+4486del
ENST00000638147.2:c.565+4478_565+4486del ENSP00000490953.2:n.565+4478_565+4486del
ENST00000377453.7:c.860_868del (CLN5) ENSP00000366673.3:p.Thr287_Asn289del
ENST00000477982.2:n.1697_1705del (FBXL3)
ENST00000485797.2:n.174-7661_174-7653del (FBXL3)
ENST00000616833.4:c.713_721del (CLN5) ENSP00000479547.1:p.Thr238_Asn240del
NM_006493.2:c.860_868del , LRG_692t1:c.860_868del (CLN5) NP_006484.1:p.Thr287_Asn289del
XM_011534917.1:c.*162_*170del (CLN5) XP_011533219.1:n.*162_*170del
NM_001366624.1:c.*162_*170del (CLN5) NP_001353553.1:n.*162_*170del
NM_006493.3:c.713_721del (CLN5) NP_006484.2:p.Thr238_Asn240del
XM_017020538.2:c.644-7661_644-7653del (FBXL3) XP_016876027.1:n.644-7661_644-7653del
NM_001366624.2:c.*162_*170del (CLN5) NP_001353553.1:n.*162_*170del
NM_006493.4:c.713_721del (CLN5) MANE Select NP_006484.2:p.Thr238_Asn240del