Canonical Allele Identifier: CA2685939712

Gene: CLN8

Linked Data

• gnomAD v4: 8-1780674-T-TCCCTTAGAAGTAAACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780674_1780675insCCCTTAGAAGTAAACAC , CM000670.2:g.1780674_1780675insCCCTTAGAAGTAAACAC	GRCh38
NC_000008.10:g.1728840_1728841insCCCTTAGAAGTAAACAC , CM000670.1:g.1728840_1728841insCCCTTAGAAGTAAACAC	GRCh37
NC_000008.9:g.1716247_1716248insCCCTTAGAAGTAAACAC	NCBI36
NG_008656.2:g.29897_29898insCCCTTAGAAGTAAACAC , LRG_691:g.29897_29898insCCCTTAGAAGTAAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.*107_*108insCCCTTAGAAGTAAACAC MANE Select	ENSP00000328182.4:n.*107_*108insCCCTTAGAAGTAAACAC
ENST00000519254.2:c.*107_*108insCCCTTAGAAGTAAACAC	ENSP00000490016.1:n.*107_*108insCCCTTAGAAGTAAACAC
ENST00000520991.3:c.*379_*380insCCCTTAGAAGTAAACAC	ENSP00000487905.2:n.*379_*380insCCCTTAGAAGTAAACAC
ENST00000635751.1:c.*107_*108insCCCTTAGAAGTAAACAC	ENSP00000489694.1:n.*107_*108insCCCTTAGAAGTAAACAC
ENST00000635773.1:c.496+9077_496+9078insCCCTTAGAAGTAAACAC
ENST00000635855.1:c.543+9077_543+9078insCCCTTAGAAGTAAACAC	ENSP00000489726.1:n.543+9077_543+9078insCCCTTAGAAGTAAACAC
ENST00000635970.1:c.*107_*108insCCCTTAGAAGTAAACAC	ENSP00000490439.1:n.*107_*108insCCCTTAGAAGTAAACAC
ENST00000636175.1:c.343+9077_343+9078insCCCTTAGAAGTAAACAC
ENST00000636934.1:c.543+9077_543+9078insCCCTTAGAAGTAAACAC	ENSP00000490218.1:n.543+9077_543+9078insCCCTTAGAAGTAAACAC
ENST00000637083.1:c.*107_*108insCCCTTAGAAGTAAACAC	ENSP00000490235.1:n.*107_*108insCCCTTAGAAGTAAACAC
ENST00000637156.1:c.*107_*108insCCCTTAGAAGTAAACAC	ENSP00000490458.1:n.*107_*108insCCCTTAGAAGTAAACAC
ENST00000331222.4:c.*107_*108insCCCTTAGAAGTAAACAC	ENSP00000328182.4:n.*107_*108insCCCTTAGAAGTAAACAC
ENST00000519254.1:n.487_488insCCCTTAGAAGTAAACAC
ENST00000523237.1:n.743_744insCCCTTAGAAGTAAACAC
NM_018941.3:c.*107_*108insCCCTTAGAAGTAAACAC , LRG_691t1:c.*107_*108insCCCTTAGAAGTAAACAC	NP_061764.2:n.*107_*108insCCCTTAGAAGTAAACAC
XM_005266021.3:c.*107_*108insCCCTTAGAAGTAAACAC	XP_005266078.1:n.*107_*108insCCCTTAGAAGTAAACAC
XM_005266022.1:c.*107_*108insCCCTTAGAAGTAAACAC	XP_005266079.1:n.*107_*108insCCCTTAGAAGTAAACAC
XM_005266023.1:c.*107_*108insCCCTTAGAAGTAAACAC	XP_005266080.1:n.*107_*108insCCCTTAGAAGTAAACAC
XM_011534745.1:c.*107_*108insCCCTTAGAAGTAAACAC	XP_011533047.1:n.*107_*108insCCCTTAGAAGTAAACAC
XM_011534746.1:c.*107_*108insCCCTTAGAAGTAAACAC	XP_011533048.1:n.*107_*108insCCCTTAGAAGTAAACAC
XM_005266021.4:c.*107_*108insCCCTTAGAAGTAAACAC	XP_005266078.1:n.*107_*108insCCCTTAGAAGTAAACAC
XM_011534746.2:c.*107_*108insCCCTTAGAAGTAAACAC	XP_011533048.1:n.*107_*108insCCCTTAGAAGTAAACAC
NM_018941.4:c.*107_*108insCCCTTAGAAGTAAACAC MANE Select	NP_061764.2:n.*107_*108insCCCTTAGAAGTAAACAC