Canonical Allele Identifier: CA2695218841

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000566_77000567dup , CM000675.2:g.77000566_77000567dup GRCh38
NC_000013.10:g.77574701_77574702dup , CM000675.1:g.77574701_77574702dup GRCh37
NC_000013.9:g.76472702_76472703dup NCBI36
NG_009064.1:g.13643_13644dup , LRG_692:g.13643_13644dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.674_675dup (CLN5) MANE Select ENSP00000366673.5:p.Phe226GlyfsTer12
ENST00000616833.6:c.*116_*117dup (CLN5) ENSP00000479547.3:n.*116_*117dup
ENST00000635838.1:c.174+4439_174+4440dup
ENST00000635905.1:n.566+4439_566+4440dup (CLN5)
ENST00000635915.1:c.672_673dup (CLN5)
ENST00000636183.2:c.674_675dup (CLN5) ENSP00000490181.2:p.Phe226GlyfsTer12
ENST00000636525.2:c.565+4439_565+4440dup (CLN5) ENSP00000490078.2:n.565+4439_565+4440dup
ENST00000636681.1:c.*365_*366dup (CLN5) ENSP00000489922.1:n.*365_*366dup
ENST00000636705.1:c.510_511dup (CLN5)
ENST00000636767.2:c.565+4439_565+4440dup (CLN5) ENSP00000489855.2:n.565+4439_565+4440dup
ENST00000636780.2:c.*123_*124dup (CLN5) ENSP00000489809.2:n.*123_*124dup
ENST00000637192.1:c.213+4439_213+4440dup
ENST00000637278.1:n.1000_1001dup (CLN5)
ENST00000637397.2:c.565+4439_565+4440dup (CLN5) ENSP00000490422.2:n.565+4439_565+4440dup
ENST00000638101.1:c.169+4439_169+4440dup ENSP00000490535.1:n.169+4439_169+4440dup
ENST00000638147.2:c.565+4439_565+4440dup ENSP00000490953.2:n.565+4439_565+4440dup
ENST00000377453.7:c.821_822dup (CLN5) ENSP00000366673.3:p.Phe275GlyfsTer12
ENST00000477982.2:n.1742_1743dup (FBXL3)
ENST00000485797.2:n.174-7616_174-7615dup (FBXL3)
ENST00000616833.4:c.674_675dup (CLN5) ENSP00000479547.1:p.Phe226GlyfsTer12
NM_006493.2:c.821_822dup , LRG_692t1:c.821_822dup (CLN5) NP_006484.1:p.Phe275GlyfsTer12
XM_011534917.1:c.*123_*124dup (CLN5) XP_011533219.1:n.*123_*124dup
NM_001366624.1:c.*123_*124dup (CLN5) NP_001353553.1:n.*123_*124dup
NM_006493.3:c.674_675dup (CLN5) NP_006484.2:p.Phe226GlyfsTer12
XM_017020538.2:c.644-7616_644-7615dup (FBXL3) XP_016876027.1:n.644-7616_644-7615dup
NM_001366624.2:c.*123_*124dup (CLN5) NP_001353553.1:n.*123_*124dup
NM_006493.4:c.674_675dup (CLN5) MANE Select NP_006484.2:p.Phe226GlyfsTer12