Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001054_77001058delinsCCTTT , CM000675.2:g.77001054_77001058delinsCCTTT	GRCh38
NC_000013.10:g.77575189_77575193delinsCCTTT , CM000675.1:g.77575189_77575193delinsCCTTT	GRCh37
NC_000013.9:g.76473190_76473194delinsCCTTT	NCBI36
NG_009064.1:g.14131_14135delinsCCTTT , LRG_692:g.14131_14135delinsCCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.85_89delinsCCTTT (CLN5) MANE Select	ENSP00000366673.5:n.85_89delinsCCTTT
ENST00000616833.6:c.604_608delinsCCTTT (CLN5)	ENSP00000479547.3:n.604_608delinsCCTTT
ENST00000635838.1:c.174+4927_174+4931delinsCCTTT
ENST00000635905.1:n.566+4927_566+4931delinsCCTTT (CLN5)
ENST00000635915.1:c.1160_1164delinsCCTTT (CLN5)
ENST00000636183.2:c.85_89delinsCCTTT (CLN5)	ENSP00000490181.2:n.85_89delinsCCTTT
ENST00000636525.2:c.565+4927_565+4931delinsCCTTT (CLN5)	ENSP00000490078.2:n.565+4927_565+4931delinsCCTTT
ENST00000636681.1:c.853_857delinsCCTTT (CLN5)	ENSP00000489922.1:n.853_857delinsCCTTT
ENST00000636705.1:c.998_1002delinsCCTTT (CLN5)
ENST00000636767.2:c.565+4927_565+4931delinsCCTTT (CLN5)	ENSP00000489855.2:n.565+4927_565+4931delinsCCTTT
ENST00000636780.2:c.611_615delinsCCTTT (CLN5)	ENSP00000489809.2:n.611_615delinsCCTTT
ENST00000637192.1:c.213+4927_213+4931delinsCCTTT
ENST00000637278.1:n.1488_1492delinsCCTTT (CLN5)
ENST00000637397.2:c.565+4927_565+4931delinsCCTTT (CLN5)	ENSP00000490422.2:n.565+4927_565+4931delinsCCTTT
ENST00000638101.1:c.169+4927_169+4931delinsCCTTT	ENSP00000490535.1:n.169+4927_169+4931delinsCCTTT
ENST00000638147.2:c.565+4927_565+4931delinsCCTTT	ENSP00000490953.2:n.565+4927_565+4931delinsCCTTT
ENST00000377453.7:c.85_89delinsCCTTT (CLN5)	ENSP00000366673.3:n.85_89delinsCCTTT
ENST00000477982.2:n.1251_1255delinsAAAGG (FBXL3)
ENST00000485797.2:n.174-8107_174-8103delinsAAAGG (FBXL3)
ENST00000616833.4:c.85_89delinsCCTTT (CLN5)	ENSP00000479547.1:n.85_89delinsCCTTT
NM_006493.2:c.85_89delinsCCTTT , LRG_692t1:c.85_89delinsCCTTT (CLN5)	NP_006484.1:n.85_89delinsCCTTT
NM_001366624.1:c.611_615delinsCCTTT (CLN5)	NP_001353553.1:n.611_615delinsCCTTT
NM_006493.3:c.85_89delinsCCTTT (CLN5)	NP_006484.2:n.85_89delinsCCTTT
XM_017020538.2:c.644-8107_644-8103delinsAAAGG (FBXL3)	XP_016876027.1:n.644-8107_644-8103delinsAAAGG
NM_001366624.2:c.611_615delinsCCTTT (CLN5)	NP_001353553.1:n.611_615delinsCCTTT
NM_006493.4:c.85_89delinsCCTTT (CLN5) MANE Select	NP_006484.2:n.85_89delinsCCTTT

HGVS	Amino-acid Change
ENST00000377453.9:c.85_89delinsCCTTT (CLN5) MANE Select	ENSP00000366673.5:n.85_89delinsCCTTT
ENST00000616833.6:c.604_608delinsCCTTT (CLN5)	ENSP00000479547.3:n.604_608delinsCCTTT
ENST00000635838.1:c.174+4927_174+4931delinsCCTTT
ENST00000635905.1:n.566+4927_566+4931delinsCCTTT (CLN5)
ENST00000635915.1:c.1160_1164delinsCCTTT (CLN5)
ENST00000636183.2:c.85_89delinsCCTTT (CLN5)	ENSP00000490181.2:n.85_89delinsCCTTT
ENST00000636525.2:c.565+4927_565+4931delinsCCTTT (CLN5)	ENSP00000490078.2:n.565+4927_565+4931delinsCCTTT
ENST00000636681.1:c.853_857delinsCCTTT (CLN5)	ENSP00000489922.1:n.853_857delinsCCTTT
ENST00000636705.1:c.998_1002delinsCCTTT (CLN5)
ENST00000636767.2:c.565+4927_565+4931delinsCCTTT (CLN5)	ENSP00000489855.2:n.565+4927_565+4931delinsCCTTT
ENST00000636780.2:c.611_615delinsCCTTT (CLN5)	ENSP00000489809.2:n.611_615delinsCCTTT
ENST00000637192.1:c.213+4927_213+4931delinsCCTTT
ENST00000637278.1:n.1488_1492delinsCCTTT (CLN5)
ENST00000637397.2:c.565+4927_565+4931delinsCCTTT (CLN5)	ENSP00000490422.2:n.565+4927_565+4931delinsCCTTT
ENST00000638101.1:c.169+4927_169+4931delinsCCTTT	ENSP00000490535.1:n.169+4927_169+4931delinsCCTTT
ENST00000638147.2:c.565+4927_565+4931delinsCCTTT	ENSP00000490953.2:n.565+4927_565+4931delinsCCTTT
ENST00000377453.7:c.85_89delinsCCTTT (CLN5)	ENSP00000366673.3:n.85_89delinsCCTTT
ENST00000477982.2:n.1251_1255delinsAAAGG (FBXL3)
ENST00000485797.2:n.174-8107_174-8103delinsAAAGG (FBXL3)
ENST00000616833.4:c.85_89delinsCCTTT (CLN5)	ENSP00000479547.1:n.85_89delinsCCTTT
NM_006493.2:c.85_89delinsCCTTT , LRG_692t1:c.85_89delinsCCTTT (CLN5)	NP_006484.1:n.85_89delinsCCTTT
NM_001366624.1:c.611_615delinsCCTTT (CLN5)	NP_001353553.1:n.611_615delinsCCTTT
NM_006493.3:c.85_89delinsCCTTT (CLN5)	NP_006484.2:n.85_89delinsCCTTT
XM_017020538.2:c.644-8107_644-8103delinsAAAGG (FBXL3)	XP_016876027.1:n.644-8107_644-8103delinsAAAGG
NM_001366624.2:c.611_615delinsCCTTT (CLN5)	NP_001353553.1:n.611_615delinsCCTTT
NM_006493.4:c.85_89delinsCCTTT (CLN5) MANE Select	NP_006484.2:n.85_89delinsCCTTT