Canonical Allele Identifier: CA1757673243

Gene: CLN8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780531_1780532delinsAG , CM000670.2:g.1780531_1780532delinsAG	GRCh38
NC_000008.10:g.1728697_1728698delinsAG , CM000670.1:g.1728697_1728698delinsAG	GRCh37
NC_000008.9:g.1716104_1716105delinsAG	NCBI36
NG_008656.2:g.29754_29755delinsAG , LRG_691:g.29754_29755delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.825_826delinsAG MANE Select	ENSP00000328182.4:p.Glu275=
ENST00000519254.2:c.825_826delinsAG	ENSP00000490016.1:p.Glu275=
ENST00000520991.3:c.*236_*237delinsAG	ENSP00000487905.2:n.*236_*237delinsAG
ENST00000635751.1:c.825_826delinsAG	ENSP00000489694.1:p.Glu275=
ENST00000635773.1:c.496+8934_496+8935delinsAG
ENST00000635855.1:c.543+8934_543+8935delinsAG	ENSP00000489726.1:n.543+8934_543+8935delinsAG
ENST00000635970.1:c.825_826delinsAG	ENSP00000490439.1:p.Glu275=
ENST00000636175.1:c.343+8934_343+8935delinsAG
ENST00000636934.1:c.543+8934_543+8935delinsAG	ENSP00000490218.1:n.543+8934_543+8935delinsAG
ENST00000637083.1:c.825_826delinsAG	ENSP00000490235.1:p.Glu275=
ENST00000637156.1:c.825_826delinsAG	ENSP00000490458.1:p.Glu275=
ENST00000331222.4:c.825_826delinsAG	ENSP00000328182.4:p.Glu275=
ENST00000519254.1:n.344_345delinsAG
ENST00000523237.1:n.600_601delinsAG
NM_018941.3:c.825_826delinsAG , LRG_691t1:c.825_826delinsAG	NP_061764.2:p.Glu275=
XM_005266021.3:c.825_826delinsAG	XP_005266078.1:p.Glu275=
XM_005266022.1:c.825_826delinsAG	XP_005266079.1:p.Glu275=
XM_005266023.1:c.825_826delinsAG	XP_005266080.1:p.Glu275=
XM_011534745.1:c.825_826delinsAG	XP_011533047.1:p.Glu275=
XM_011534746.1:c.825_826delinsAG	XP_011533048.1:p.Glu275=
XM_005266021.4:c.825_826delinsAG	XP_005266078.1:p.Glu275=
XM_011534746.2:c.825_826delinsAG	XP_011533048.1:p.Glu275=
NM_018941.4:c.825_826delinsAG MANE Select	NP_061764.2:p.Glu275=