Canonical Allele Identifier: CA2184875091

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214316_68214319delinsCGTT , CM000677.2:g.68214316_68214319delinsCGTT	GRCh38
NC_000015.9:g.68506654_68506657delinsCGTT , CM000677.1:g.68506654_68506657delinsCGTT	GRCh37
NC_000015.8:g.66293708_66293711delinsCGTT	NCBI36
NG_008764.2:g.47893_47896delinsAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.268_271delinsAACG MANE Select	ENSP00000249806.5:p.Asn90=
ENST00000562767.2:c.83+15183_83+15186delinsAACG	ENSP00000456336.1:n.83+15183_83+15186delinsAACG
ENST00000563917.2:n.110_113delinsAACG
ENST00000565471.6:c.84-4560_84-4557delinsAACG	ENSP00000457384.1:n.84-4560_84-4557delinsAACG
ENST00000635747.1:c.*171_*174delinsAACG	ENSP00000490627.1:n.*171_*174delinsAACG
ENST00000635754.1:n.1290_1293delinsAACG
ENST00000636020.1:n.400_403delinsAACG
ENST00000636212.1:c.268_271delinsAACG	ENSP00000489851.1:p.Asn90=
ENST00000636314.1:c.153_156delinsAACG	ENSP00000490295.1:p.Thr51=
ENST00000637054.1:c.198+4217_198+4220delinsAACG	ENSP00000490807.1:n.198+4217_198+4220delinsAACG
ENST00000637223.1:c.*171_*174delinsAACG	ENSP00000490010.1:n.*171_*174delinsAACG
ENST00000637329.1:c.179_182delinsAACG
ENST00000637450.1:c.153_156delinsAACG	ENSP00000490204.1:p.Thr51=
ENST00000637494.1:c.199-3001_199-2998delinsAACG	ENSP00000490057.1:n.199-3001_199-2998delinsAACG
ENST00000637667.1:c.199-2456_199-2453delinsAACG	ENSP00000489843.1:n.199-2456_199-2453delinsAACG
ENST00000637823.1:c.194_197delinsAACG
ENST00000637888.1:c.198+4217_198+4220delinsAACG	ENSP00000490546.1:n.198+4217_198+4220delinsAACG
ENST00000638076.1:c.268_271delinsAACG	ENSP00000490373.1:p.Asn90=
ENST00000638144.1:n.100_103delinsAACG
ENST00000646164.1:c.38+4217_38+4220delinsAACG
ENST00000249806.9:c.268_271delinsAACG	ENSP00000249806.5:p.Asn90=
ENST00000538696.5:c.364_367delinsAACG	ENSP00000445770.1:p.Asn122=
ENST00000562767.1:c.83+15183_83+15186delinsAACG	ENSP00000456336.1:n.83+15183_83+15186delinsAACG
ENST00000563917.1:n.49_52delinsAACG
ENST00000564752.1:c.268_271delinsAACG	ENSP00000457822.1:p.Asn90=
ENST00000564846.1:n.700_703delinsAACG
ENST00000565471.5:c.84-4560_84-4557delinsAACG	ENSP00000457384.1:n.84-4560_84-4557delinsAACG
ENST00000566347.5:c.268_271delinsAACG	ENSP00000457783.1:p.Asn90=
ENST00000567060.5:c.268_271delinsAACG	ENSP00000454818.1:p.Asn90=
NM_017882.2:c.268_271delinsAACG	NP_060352.1:p.Asn90=
XR_931861.1:n.371_374delinsAACG
NM_017882.3:c.268_271delinsAACG MANE Select	NP_060352.1:p.Asn90=