Canonical Allele Identifier: CA1757673179

Gene: CLN8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780407_1780408delinsTC , CM000670.2:g.1780407_1780408delinsTC	GRCh38
NC_000008.10:g.1728573_1728574delinsTC , CM000670.1:g.1728573_1728574delinsTC	GRCh37
NC_000008.9:g.1715980_1715981delinsTC	NCBI36
NG_008656.2:g.29630_29631delinsTC , LRG_691:g.29630_29631delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.701_702delinsTC MANE Select	ENSP00000328182.4:p.Phe234=
ENST00000519254.2:c.701_702delinsTC	ENSP00000490016.1:p.Phe234=
ENST00000520991.3:c.*112_*113delinsTC	ENSP00000487905.2:n.*112_*113delinsTC
ENST00000635751.1:c.701_702delinsTC	ENSP00000489694.1:p.Phe234=
ENST00000635773.1:c.496+8810_496+8811delinsTC
ENST00000635855.1:c.543+8810_543+8811delinsTC	ENSP00000489726.1:n.543+8810_543+8811delinsTC
ENST00000635970.1:c.701_702delinsTC	ENSP00000490439.1:p.Phe234=
ENST00000636175.1:c.343+8810_343+8811delinsTC
ENST00000636934.1:c.543+8810_543+8811delinsTC	ENSP00000490218.1:n.543+8810_543+8811delinsTC
ENST00000637083.1:c.701_702delinsTC	ENSP00000490235.1:p.Phe234=
ENST00000637156.1:c.701_702delinsTC	ENSP00000490458.1:p.Phe234=
ENST00000331222.4:c.701_702delinsTC	ENSP00000328182.4:p.Phe234=
ENST00000519254.1:n.220_221delinsTC
ENST00000523237.1:n.476_477delinsTC
NM_018941.3:c.701_702delinsTC , LRG_691t1:c.701_702delinsTC	NP_061764.2:p.Phe234=
XM_005266021.3:c.701_702delinsTC	XP_005266078.1:p.Phe234=
XM_005266022.1:c.701_702delinsTC	XP_005266079.1:p.Phe234=
XM_005266023.1:c.701_702delinsTC	XP_005266080.1:p.Phe234=
XM_011534745.1:c.701_702delinsTC	XP_011533047.1:p.Phe234=
XM_011534746.1:c.701_702delinsTC	XP_011533048.1:p.Phe234=
XM_005266021.4:c.701_702delinsTC	XP_005266078.1:p.Phe234=
XM_011534746.2:c.701_702delinsTC	XP_011533048.1:p.Phe234=
NM_018941.4:c.701_702delinsTC MANE Select	NP_061764.2:p.Phe234=