Canonical Allele Identifier: CA2103427813

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995932_76995933delinsAG , CM000675.2:g.76995932_76995933delinsAG	GRCh38
NC_000013.10:g.77570067_77570068delinsAG , CM000675.1:g.77570067_77570068delinsAG	GRCh37
NC_000013.9:g.76468068_76468069delinsAG	NCBI36
NG_009064.1:g.9009_9010delinsAG , LRG_692:g.9009_9010delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.370_371delinsAG (CLN5) MANE Select	ENSP00000366673.5:p.Ser124=
ENST00000485938.4:c.370_371delinsAG (CLN5)	ENSP00000482959.3:p.Ser124=
ENST00000616833.6:c.370_371delinsAG (CLN5)	ENSP00000479547.3:p.Ser124=
ENST00000635905.1:n.371_372delinsAG (CLN5)
ENST00000635915.1:c.368_369delinsAG (CLN5)
ENST00000635989.1:n.437_438delinsAG (CLN5)
ENST00000636183.2:c.370_371delinsAG (CLN5)	ENSP00000490181.2:p.Ser124=
ENST00000636520.1:n.1882_1883delinsAG (CLN5)
ENST00000636525.2:c.370_371delinsAG (CLN5)	ENSP00000490078.2:p.Ser124=
ENST00000636602.1:n.316_317delinsAG (CLN5)
ENST00000636681.1:c.*61_*62delinsAG (CLN5)	ENSP00000489922.1:n.*61_*62delinsAG
ENST00000636705.1:c.206_207delinsAG (CLN5)
ENST00000636767.2:c.370_371delinsAG (CLN5)	ENSP00000489855.2:p.Ser124=
ENST00000636780.2:c.370_371delinsAG (CLN5)	ENSP00000489809.2:p.Ser124=
ENST00000637192.1:c.18_19delinsAG
ENST00000637278.1:n.696_697delinsAG (CLN5)
ENST00000637397.2:c.370_371delinsAG (CLN5)	ENSP00000490422.2:p.Ser124=
ENST00000637537.2:c.370_371delinsAG (CLN5)	ENSP00000489711.2:p.Ser124=
ENST00000638147.2:c.370_371delinsAG	ENSP00000490953.2:p.Ser124=
ENST00000377453.7:c.517_518delinsAG (CLN5)	ENSP00000366673.3:p.Ser173=
ENST00000485797.2:n.174-2982_174-2981delinsCT (FBXL3)
ENST00000485938.2:c.353_354delinsAG (CLN5)
ENST00000616833.4:c.370_371delinsAG (CLN5)	ENSP00000479547.1:p.Ser124=
NM_006493.2:c.517_518delinsAG , LRG_692t1:c.517_518delinsAG (CLN5)	NP_006484.1:p.Ser173=
XM_011534917.1:c.517_518delinsAG (CLN5)	XP_011533219.1:p.Ser173=
NM_001366624.1:c.370_371delinsAG (CLN5)	NP_001353553.1:p.Ser124=
NM_006493.3:c.370_371delinsAG (CLN5)	NP_006484.2:p.Ser124=
XM_017020538.2:c.644-2982_644-2981delinsCT (FBXL3)	XP_016876027.1:n.644-2982_644-2981delinsCT
NM_001366624.2:c.370_371delinsAG (CLN5)	NP_001353553.1:p.Ser124=
NM_006493.4:c.370_371delinsAG (CLN5) MANE Select	NP_006484.2:p.Ser124=