Canonical Allele Identifier: CA618959443
Gene: CLN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68208357_68208358insACCCCCCACAGGAAGGGTCCTAGGTAGGGGGAGGTTCCTCCTCCCTTGAAACCCTGGGCCACT , CM000677.2:g.68208357_68208358insACCCCCCACAGGAAGGGTCCTAGGTAGGGGGAGGTTCCTCCTCCCTTGAAACCCTGGGCCACT GRCh38
NC_000015.9:g.68500695_68500696insACCCCCCACAGGAAGGGTCCTAGGTAGGGGGAGGTTCCTCCTCCCTTGAAACCCTGGGCCACT , CM000677.1:g.68500695_68500696insACCCCCCACAGGAAGGGTCCTAGGTAGGGGGAGGTTCCTCCTCCCTTGAAACCCTGGGCCACT GRCh37
NC_000015.8:g.66287749_66287750insACCCCCCACAGGAAGGGTCCTAGGTAGGGGGAGGTTCCTCCTCCCTTGAAACCCTGGGCCACT NCBI36
NG_008764.2:g.53854_53855insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.718_719insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT MANE Select ENSP00000249806.5:p.Ala240GlufsTer15
ENST00000562767.2:c.84-10730_84-10729insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000456336.1:n.84-10730_84-10729insAGTGGCCCAGGGTTTCAAGGG...
ENST00000565471.6:c.259_260insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000457384.1:p.Ala87GlufsTer15
ENST00000635747.1:c.*621_*622insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000490627.1:n.*621_*622insAGTGGCCCAGGGTTTCAAGGGAGGAGGAA...
ENST00000636212.1:c.*388_*389insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000489851.1:n.*388_*389insAGTGGCCCAGGGTTTCAAGGGAGGAGGAA...
ENST00000636674.1:n.1820_1821insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT
ENST00000636964.1:n.2246_2247insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT
ENST00000637054.1:c.198+10178_198+10179insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000490807.1:n.198+10178_198+10179insAGTGGCCCAGGGTTTCAAG...
ENST00000637329.1:c.687_688insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT
ENST00000637450.1:c.*372_*373insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000490204.1:n.*372_*373insAGTGGCCCAGGGTTTCAAGGGAGGAGGAA...
ENST00000637494.1:c.430_431insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000490057.1:p.Ala144GlufsTer15
ENST00000637667.1:c.619_620insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000489843.1:p.Ala207GlufsTer15
ENST00000637823.1:c.543_544insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT
ENST00000637888.1:c.198+10178_198+10179insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000490546.1:n.198+10178_198+10179insAGTGGCCCAGGGTTTCAAG...
ENST00000638076.1:c.*321_*322insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000490373.1:n.*321_*322insAGTGGCCCAGGGTTTCAAGGGAGGAGGAA...
ENST00000638144.1:n.361_362insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT
ENST00000646164.1:c.39-8677_39-8676insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT
ENST00000249806.9:c.718_719insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000249806.5:p.Ala240GlufsTer15
ENST00000538696.5:c.814_815insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000445770.1:p.Ala272GlufsTer15
ENST00000562767.1:c.84-10730_84-10729insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000456336.1:n.84-10730_84-10729insAGTGGCCCAGGGTTTCAAGGG...
ENST00000564752.1:c.*102_*103insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000457822.1:n.*102_*103insAGTGGCCCAGGGTTTCAAGGGAGGAGGAA...
ENST00000565471.5:c.259_260insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000457384.1:p.Ala87GlufsTer15
ENST00000566347.5:c.529_530insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000457783.1:p.Ala177GlufsTer15
ENST00000567060.5:c.*116_*117insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT ENSP00000454818.1:n.*116_*117insAGTGGCCCAGGGTTTCAAGGGAGGAGGAA...
NM_017882.2:c.718_719insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT NP_060352.1:p.Ala240GlufsTer15
NM_017882.3:c.718_719insAGTGGCCCAGGGTTTCAAGGGAGGAGGAACCTCCCCCTACCTAGGACCCTTCCTGTGGGGGGT MANE Select NP_060352.1:p.Ala240GlufsTer15