Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001078_77001079delinsTA , CM000675.2:g.77001078_77001079delinsTA	GRCh38
NC_000013.10:g.77575213_77575214delinsTA , CM000675.1:g.77575213_77575214delinsTA	GRCh37
NC_000013.9:g.76473214_76473215delinsTA	NCBI36
NG_009064.1:g.14155_14156delinsTA , LRG_692:g.14155_14156delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.109_110delinsTA (CLN5) MANE Select	ENSP00000366673.5:n.109_110delinsTA
ENST00000616833.6:c.628_629delinsTA (CLN5)	ENSP00000479547.3:n.628_629delinsTA
ENST00000635838.1:c.174+4951_174+4952delinsTA
ENST00000635905.1:n.566+4951_566+4952delinsTA (CLN5)
ENST00000635915.1:c.1184_1185delinsTA (CLN5)
ENST00000636183.2:c.109_110delinsTA (CLN5)	ENSP00000490181.2:n.109_110delinsTA
ENST00000636525.2:c.565+4951_565+4952delinsTA (CLN5)	ENSP00000490078.2:n.565+4951_565+4952delinsTA
ENST00000636681.1:c.877_878delinsTA (CLN5)	ENSP00000489922.1:n.877_878delinsTA
ENST00000636705.1:c.1022_1023delinsTA (CLN5)
ENST00000636767.2:c.565+4951_565+4952delinsTA (CLN5)	ENSP00000489855.2:n.565+4951_565+4952delinsTA
ENST00000636780.2:c.635_636delinsTA (CLN5)	ENSP00000489809.2:n.635_636delinsTA
ENST00000637192.1:c.213+4951_213+4952delinsTA
ENST00000637278.1:n.1512_1513delinsTA (CLN5)
ENST00000637397.2:c.565+4951_565+4952delinsTA (CLN5)	ENSP00000490422.2:n.565+4951_565+4952delinsTA
ENST00000638101.1:c.169+4951_169+4952delinsTA	ENSP00000490535.1:n.169+4951_169+4952delinsTA
ENST00000638147.2:c.565+4951_565+4952delinsTA	ENSP00000490953.2:n.565+4951_565+4952delinsTA
ENST00000377453.7:c.109_110delinsTA (CLN5)	ENSP00000366673.3:n.109_110delinsTA
ENST00000477982.2:n.1230_1231delinsTA (FBXL3)
ENST00000485797.2:n.174-8128_174-8127delinsTA (FBXL3)
ENST00000616833.4:c.109_110delinsTA (CLN5)	ENSP00000479547.1:n.109_110delinsTA
NM_006493.2:c.109_110delinsTA , LRG_692t1:c.109_110delinsTA (CLN5)	NP_006484.1:n.109_110delinsTA
NM_001366624.1:c.635_636delinsTA (CLN5)	NP_001353553.1:n.635_636delinsTA
NM_006493.3:c.109_110delinsTA (CLN5)	NP_006484.2:n.109_110delinsTA
XM_017020538.2:c.644-8128_644-8127delinsTA (FBXL3)	XP_016876027.1:n.644-8128_644-8127delinsTA
NM_001366624.2:c.635_636delinsTA (CLN5)	NP_001353553.1:n.635_636delinsTA
NM_006493.4:c.109_110delinsTA (CLN5) MANE Select	NP_006484.2:n.109_110delinsTA

HGVS	Amino-acid Change
ENST00000377453.9:c.109_110delinsTA (CLN5) MANE Select	ENSP00000366673.5:n.109_110delinsTA
ENST00000616833.6:c.628_629delinsTA (CLN5)	ENSP00000479547.3:n.628_629delinsTA
ENST00000635838.1:c.174+4951_174+4952delinsTA
ENST00000635905.1:n.566+4951_566+4952delinsTA (CLN5)
ENST00000635915.1:c.1184_1185delinsTA (CLN5)
ENST00000636183.2:c.109_110delinsTA (CLN5)	ENSP00000490181.2:n.109_110delinsTA
ENST00000636525.2:c.565+4951_565+4952delinsTA (CLN5)	ENSP00000490078.2:n.565+4951_565+4952delinsTA
ENST00000636681.1:c.877_878delinsTA (CLN5)	ENSP00000489922.1:n.877_878delinsTA
ENST00000636705.1:c.1022_1023delinsTA (CLN5)
ENST00000636767.2:c.565+4951_565+4952delinsTA (CLN5)	ENSP00000489855.2:n.565+4951_565+4952delinsTA
ENST00000636780.2:c.635_636delinsTA (CLN5)	ENSP00000489809.2:n.635_636delinsTA
ENST00000637192.1:c.213+4951_213+4952delinsTA
ENST00000637278.1:n.1512_1513delinsTA (CLN5)
ENST00000637397.2:c.565+4951_565+4952delinsTA (CLN5)	ENSP00000490422.2:n.565+4951_565+4952delinsTA
ENST00000638101.1:c.169+4951_169+4952delinsTA	ENSP00000490535.1:n.169+4951_169+4952delinsTA
ENST00000638147.2:c.565+4951_565+4952delinsTA	ENSP00000490953.2:n.565+4951_565+4952delinsTA
ENST00000377453.7:c.109_110delinsTA (CLN5)	ENSP00000366673.3:n.109_110delinsTA
ENST00000477982.2:n.1230_1231delinsTA (FBXL3)
ENST00000485797.2:n.174-8128_174-8127delinsTA (FBXL3)
ENST00000616833.4:c.109_110delinsTA (CLN5)	ENSP00000479547.1:n.109_110delinsTA
NM_006493.2:c.109_110delinsTA , LRG_692t1:c.109_110delinsTA (CLN5)	NP_006484.1:n.109_110delinsTA
NM_001366624.1:c.635_636delinsTA (CLN5)	NP_001353553.1:n.635_636delinsTA
NM_006493.3:c.109_110delinsTA (CLN5)	NP_006484.2:n.109_110delinsTA
XM_017020538.2:c.644-8128_644-8127delinsTA (FBXL3)	XP_016876027.1:n.644-8128_644-8127delinsTA
NM_001366624.2:c.635_636delinsTA (CLN5)	NP_001353553.1:n.635_636delinsTA
NM_006493.4:c.109_110delinsTA (CLN5) MANE Select	NP_006484.2:n.109_110delinsTA