Canonical Allele Identifier: CA2778737120
Gene: CLN8 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1780538_1780539insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT , CM000670.2:g.1780538_1780539insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT GRCh38
NC_000008.10:g.1728704_1728705insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT , CM000670.1:g.1728704_1728705insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT GRCh37
NC_000008.9:g.1716111_1716112insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT NCBI36
NG_008656.2:g.29761_29762insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT , LRG_691:g.29761_29762insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000331222.6:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT MANE Select ENSP00000328182.4:p.Gly278GlufsTer29
ENST00000519254.2:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT ENSP00000490016.1:p.Gly278GlufsTer29
ENST00000520991.3:c.*243_*244insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT ENSP00000487905.2:n.*243_*244insAGAGCAGAGCCCTGGGGAGGAAATTCTTT...
ENST00000635751.1:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT ENSP00000489694.1:p.Gly278GlufsTer29
ENST00000635773.1:c.496+8941_496+8942insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT
ENST00000635855.1:c.543+8941_543+8942insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT ENSP00000489726.1:n.543+8941_543+8942insAGAGCAGAGCCCTGGGGAGGA...
ENST00000635970.1:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT ENSP00000490439.1:p.Gly278GlufsTer29
ENST00000636175.1:c.343+8941_343+8942insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT
ENST00000636934.1:c.543+8941_543+8942insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT ENSP00000490218.1:n.543+8941_543+8942insAGAGCAGAGCCCTGGGGAGGA...
ENST00000637083.1:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT ENSP00000490235.1:p.Gly278GlufsTer29
ENST00000637156.1:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT ENSP00000490458.1:p.Gly278GlufsTer29
ENST00000331222.4:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT ENSP00000328182.4:p.Gly278GlufsTer29
ENST00000519254.1:n.351_352insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT
ENST00000523237.1:n.607_608insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT
NM_018941.3:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT , LRG_691t1:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT NP_061764.2:p.Gly278GlufsTer29
XM_005266021.3:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT XP_005266078.1:p.Gly278GlufsTer29
XM_005266022.1:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT XP_005266079.1:p.Gly278GlufsTer29
XM_005266023.1:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT XP_005266080.1:p.Gly278GlufsTer29
XM_011534745.1:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT XP_011533047.1:p.Gly278GlufsTer29
XM_011534746.1:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT XP_011533048.1:p.Gly278GlufsTer29
XM_005266021.4:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT XP_005266078.1:p.Gly278GlufsTer29
XM_011534746.2:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT XP_011533048.1:p.Gly278GlufsTer29
NM_018941.4:c.832_833insAGAGCAGAGCCCTGGGGAGGAAATTCTTTTGCTTTGAAATGAATTTGTTTTGTTTGGTAAGTAAGGTAGCAAATACCTTTTTGTGATGTGAAGAATGAATTTT MANE Select NP_061764.2:p.Gly278GlufsTer29
Search 100 bp 5'
Search 100 bp 3'