Canonical Allele Identifier: CA1757673164

Gene: CLN8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780379_1780389delinsAGCCTGTATCT , CM000670.2:g.1780379_1780389delinsAGCCTGTATCT	GRCh38
NC_000008.10:g.1728545_1728555delinsAGCCTGTATCT , CM000670.1:g.1728545_1728555delinsAGCCTGTATCT	GRCh37
NC_000008.9:g.1715952_1715962delinsAGCCTGTATCT	NCBI36
NG_008656.2:g.29602_29612delinsAGCCTGTATCT , LRG_691:g.29602_29612delinsAGCCTGTATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.673_683delinsAGCCTGTATCT MANE Select	ENSP00000328182.4:p.Ser225=
ENST00000519254.2:c.673_683delinsAGCCTGTATCT	ENSP00000490016.1:p.Ser225=
ENST00000520991.3:c.*84_*94delinsAGCCTGTATCT	ENSP00000487905.2:n.*84_*94delinsAGCCTGTATCT
ENST00000635751.1:c.673_683delinsAGCCTGTATCT	ENSP00000489694.1:p.Ser225=
ENST00000635773.1:c.496+8782_496+8792delinsAGCCTGTATCT
ENST00000635855.1:c.543+8782_543+8792delinsAGCCTGTATCT	ENSP00000489726.1:n.543+8782_543+8792delinsAGCCTGTATCT
ENST00000635970.1:c.673_683delinsAGCCTGTATCT	ENSP00000490439.1:p.Ser225=
ENST00000636175.1:c.343+8782_343+8792delinsAGCCTGTATCT
ENST00000636934.1:c.543+8782_543+8792delinsAGCCTGTATCT	ENSP00000490218.1:n.543+8782_543+8792delinsAGCCTGTATCT
ENST00000637083.1:c.673_683delinsAGCCTGTATCT	ENSP00000490235.1:p.Ser225=
ENST00000637156.1:c.673_683delinsAGCCTGTATCT	ENSP00000490458.1:p.Ser225=
ENST00000331222.4:c.673_683delinsAGCCTGTATCT	ENSP00000328182.4:p.Ser225=
ENST00000519254.1:n.192_202delinsAGCCTGTATCT
ENST00000523237.1:n.448_458delinsAGCCTGTATCT
NM_018941.3:c.673_683delinsAGCCTGTATCT , LRG_691t1:c.673_683delinsAGCCTGTATCT	NP_061764.2:p.Ser225=
XM_005266021.3:c.673_683delinsAGCCTGTATCT	XP_005266078.1:p.Ser225=
XM_005266022.1:c.673_683delinsAGCCTGTATCT	XP_005266079.1:p.Ser225=
XM_005266023.1:c.673_683delinsAGCCTGTATCT	XP_005266080.1:p.Ser225=
XM_011534745.1:c.673_683delinsAGCCTGTATCT	XP_011533047.1:p.Ser225=
XM_011534746.1:c.673_683delinsAGCCTGTATCT	XP_011533048.1:p.Ser225=
XM_005266021.4:c.673_683delinsAGCCTGTATCT	XP_005266078.1:p.Ser225=
XM_011534746.2:c.673_683delinsAGCCTGTATCT	XP_011533048.1:p.Ser225=
NM_018941.4:c.673_683delinsAGCCTGTATCT MANE Select	NP_061764.2:p.Ser225=