Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000994_77000996dup , CM000675.2:g.77000994_77000996dup	GRCh38
NC_000013.10:g.77575129_77575131dup , CM000675.1:g.77575129_77575131dup	GRCh37
NC_000013.9:g.76473130_76473132dup	NCBI36
NG_009064.1:g.14071_14073dup , LRG_692:g.14071_14073dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.25_27dup (CLN5) MANE Select	ENSP00000366673.5:n.25_27dup
ENST00000616833.6:c.544_546dup (CLN5)	ENSP00000479547.3:n.544_546dup
ENST00000635838.1:c.174+4867_174+4869dup
ENST00000635905.1:n.566+4867_566+4869dup (CLN5)
ENST00000635915.1:c.1100_1102dup (CLN5)
ENST00000636183.2:c.25_27dup (CLN5)	ENSP00000490181.2:n.25_27dup
ENST00000636525.2:c.565+4867_565+4869dup (CLN5)	ENSP00000490078.2:n.565+4867_565+4869dup
ENST00000636681.1:c.793_795dup (CLN5)	ENSP00000489922.1:n.793_795dup
ENST00000636705.1:c.938_940dup (CLN5)
ENST00000636767.2:c.565+4867_565+4869dup (CLN5)	ENSP00000489855.2:n.565+4867_565+4869dup
ENST00000636780.2:c.551_553dup (CLN5)	ENSP00000489809.2:n.551_553dup
ENST00000637192.1:c.213+4867_213+4869dup
ENST00000637278.1:n.1428_1430dup (CLN5)
ENST00000637397.2:c.565+4867_565+4869dup (CLN5)	ENSP00000490422.2:n.565+4867_565+4869dup
ENST00000638101.1:c.169+4867_169+4869dup	ENSP00000490535.1:n.169+4867_169+4869dup
ENST00000638147.2:c.565+4867_565+4869dup	ENSP00000490953.2:n.565+4867_565+4869dup
ENST00000377453.7:c.25_27dup (CLN5)	ENSP00000366673.3:n.25_27dup
ENST00000477982.2:n.1316_1318dup (FBXL3)
ENST00000485797.2:n.174-8042_174-8040dup (FBXL3)
ENST00000616833.4:c.25_27dup (CLN5)	ENSP00000479547.1:n.25_27dup
NM_006493.2:c.25_27dup , LRG_692t1:c.25_27dup (CLN5)	NP_006484.1:n.25_27dup
NM_001366624.1:c.551_553dup (CLN5)	NP_001353553.1:n.551_553dup
NM_006493.3:c.25_27dup (CLN5)	NP_006484.2:n.25_27dup
XM_017020538.2:c.644-8042_644-8040dup (FBXL3)	XP_016876027.1:n.644-8042_644-8040dup
NM_001366624.2:c.551_553dup (CLN5)	NP_001353553.1:n.551_553dup
NM_006493.4:c.25_27dup (CLN5) MANE Select	NP_006484.2:n.25_27dup

HGVS	Amino-acid Change
ENST00000377453.9:c.25_27dup (CLN5) MANE Select	ENSP00000366673.5:n.25_27dup
ENST00000616833.6:c.544_546dup (CLN5)	ENSP00000479547.3:n.544_546dup
ENST00000635838.1:c.174+4867_174+4869dup
ENST00000635905.1:n.566+4867_566+4869dup (CLN5)
ENST00000635915.1:c.1100_1102dup (CLN5)
ENST00000636183.2:c.25_27dup (CLN5)	ENSP00000490181.2:n.25_27dup
ENST00000636525.2:c.565+4867_565+4869dup (CLN5)	ENSP00000490078.2:n.565+4867_565+4869dup
ENST00000636681.1:c.793_795dup (CLN5)	ENSP00000489922.1:n.793_795dup
ENST00000636705.1:c.938_940dup (CLN5)
ENST00000636767.2:c.565+4867_565+4869dup (CLN5)	ENSP00000489855.2:n.565+4867_565+4869dup
ENST00000636780.2:c.551_553dup (CLN5)	ENSP00000489809.2:n.551_553dup
ENST00000637192.1:c.213+4867_213+4869dup
ENST00000637278.1:n.1428_1430dup (CLN5)
ENST00000637397.2:c.565+4867_565+4869dup (CLN5)	ENSP00000490422.2:n.565+4867_565+4869dup
ENST00000638101.1:c.169+4867_169+4869dup	ENSP00000490535.1:n.169+4867_169+4869dup
ENST00000638147.2:c.565+4867_565+4869dup	ENSP00000490953.2:n.565+4867_565+4869dup
ENST00000377453.7:c.25_27dup (CLN5)	ENSP00000366673.3:n.25_27dup
ENST00000477982.2:n.1316_1318dup (FBXL3)
ENST00000485797.2:n.174-8042_174-8040dup (FBXL3)
ENST00000616833.4:c.25_27dup (CLN5)	ENSP00000479547.1:n.25_27dup
NM_006493.2:c.25_27dup , LRG_692t1:c.25_27dup (CLN5)	NP_006484.1:n.25_27dup
NM_001366624.1:c.551_553dup (CLN5)	NP_001353553.1:n.551_553dup
NM_006493.3:c.25_27dup (CLN5)	NP_006484.2:n.25_27dup
XM_017020538.2:c.644-8042_644-8040dup (FBXL3)	XP_016876027.1:n.644-8042_644-8040dup
NM_001366624.2:c.551_553dup (CLN5)	NP_001353553.1:n.551_553dup
NM_006493.4:c.25_27dup (CLN5) MANE Select	NP_006484.2:n.25_27dup

Linked Data

Genomic Alleles

Transcript Alleles