Canonical Allele Identifier: CA2103434330

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000181A= , CM000675.2:g.77000181A= GRCh38
NC_000013.10:g.77574316A= , CM000675.1:g.77574316A= GRCh37
NC_000013.9:g.76472317A= NCBI36
NG_009064.1:g.13258A= , LRG_692:g.13258A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.566-277A= (CLN5) MANE Select ENSP00000366673.5:n.566-277A=
ENST00000616833.6:c.*7+186A= (CLN5) ENSP00000479547.3:n.*7+186A=
ENST00000635761.1:n.366-19A= (CLN5)
ENST00000635838.1:c.174+4054A=
ENST00000635905.1:n.566+4054A= (CLN5)
ENST00000635915.1:c.564-277A= (CLN5)
ENST00000636183.2:c.566-277A= (CLN5) ENSP00000490181.2:n.566-277A=
ENST00000636525.2:c.565+4054A= (CLN5) ENSP00000490078.2:n.565+4054A=
ENST00000636681.1:c.*257-277A= (CLN5) ENSP00000489922.1:n.*257-277A=
ENST00000636705.1:c.402-277A= (CLN5)
ENST00000636767.2:c.565+4054A= (CLN5) ENSP00000489855.2:n.565+4054A=
ENST00000636780.2:c.*15-277A= (CLN5) ENSP00000489809.2:n.*15-277A=
ENST00000637192.1:c.213+4054A=
ENST00000637278.1:n.892-277A= (CLN5)
ENST00000637397.2:c.565+4054A= (CLN5) ENSP00000490422.2:n.565+4054A=
ENST00000638101.1:c.169+4054A= ENSP00000490535.1:n.169+4054A=
ENST00000638147.2:c.565+4054A= ENSP00000490953.2:n.565+4054A=
ENST00000377453.7:c.713-277A= (CLN5) ENSP00000366673.3:n.713-277A=
ENST00000477982.2:n.2128T= (FBXL3)
ENST00000485797.2:n.174-7230T= (FBXL3)
ENST00000616833.4:c.566-277A= (CLN5) ENSP00000479547.1:n.566-277A=
NM_006493.2:c.713-277A= , LRG_692t1:c.713-277A= (CLN5) NP_006484.1:n.713-277A=
XM_011534917.1:c.*15-277A= (CLN5) XP_011533219.1:n.*15-277A=
NM_001366624.1:c.*15-277A= (CLN5) NP_001353553.1:n.*15-277A=
NM_006493.3:c.566-277A= (CLN5) NP_006484.2:n.566-277A=
XM_017020538.2:c.644-7230T= (FBXL3) XP_016876027.1:n.644-7230T=
NM_001366624.2:c.*15-277A= (CLN5) NP_001353553.1:n.*15-277A=
NM_006493.4:c.566-277A= (CLN5) MANE Select NP_006484.2:n.566-277A=