Canonical Allele Identifier: CA2184874908

Gene: CLN6

Linked Data

• dbSNP Id: rs2093213986

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214181_68214190del , CM000677.2:g.68214181_68214190del	GRCh38
NC_000015.9:g.68506519_68506528del , CM000677.1:g.68506519_68506528del	GRCh37
NC_000015.8:g.66293573_66293582del	NCBI36
NG_008764.2:g.48025_48034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.297+103_297+112del MANE Select	ENSP00000249806.5:n.297+103_297+112del
ENST00000562767.2:c.83+15315_83+15324del	ENSP00000456336.1:n.83+15315_83+15324del
ENST00000563917.2:n.139+103_139+112del
ENST00000565471.6:c.84-4428_84-4419del	ENSP00000457384.1:n.84-4428_84-4419del
ENST00000635747.1:c.*200+103_*200+112del	ENSP00000490627.1:n.*200+103_*200+112del
ENST00000635754.1:n.1422_1431del
ENST00000636020.1:n.532_541del
ENST00000636212.1:c.297+103_297+112del	ENSP00000489851.1:n.297+103_297+112del
ENST00000636314.1:c.182+103_182+112del	ENSP00000490295.1:n.182+103_182+112del
ENST00000637054.1:c.198+4349_198+4358del	ENSP00000490807.1:n.198+4349_198+4358del
ENST00000637223.1:c.*200+103_*200+112del	ENSP00000490010.1:n.*200+103_*200+112del
ENST00000637329.1:c.208+103_208+112del
ENST00000637450.1:c.182+103_182+112del	ENSP00000490204.1:n.182+103_182+112del
ENST00000637494.1:c.199-2869_199-2860del	ENSP00000490057.1:n.199-2869_199-2860del
ENST00000637667.1:c.199-2324_199-2315del	ENSP00000489843.1:n.199-2324_199-2315del
ENST00000637823.1:c.223+103_223+112del
ENST00000637888.1:c.198+4349_198+4358del	ENSP00000490546.1:n.198+4349_198+4358del
ENST00000638076.1:c.297+103_297+112del	ENSP00000490373.1:n.297+103_297+112del
ENST00000638144.1:n.129+103_129+112del
ENST00000646164.1:c.38+4349_38+4358del
ENST00000249806.9:c.297+103_297+112del	ENSP00000249806.5:n.297+103_297+112del
ENST00000538696.5:c.393+103_393+112del	ENSP00000445770.1:n.393+103_393+112del
ENST00000562767.1:c.83+15315_83+15324del	ENSP00000456336.1:n.83+15315_83+15324del
ENST00000563917.1:n.78+103_78+112del
ENST00000564752.1:c.297+103_297+112del	ENSP00000457822.1:n.297+103_297+112del
ENST00000564846.1:n.832_841del
ENST00000565471.5:c.84-4428_84-4419del	ENSP00000457384.1:n.84-4428_84-4419del
ENST00000566347.5:c.297+103_297+112del	ENSP00000457783.1:n.297+103_297+112del
ENST00000567060.5:c.297+103_297+112del	ENSP00000454818.1:n.297+103_297+112del
NM_017882.2:c.297+103_297+112del	NP_060352.1:n.297+103_297+112del
XR_931861.1:n.400+103_400+112del
NM_017882.3:c.297+103_297+112del MANE Select	NP_060352.1:n.297+103_297+112del