Canonical Allele Identifier: CA2184878335

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218487_68218489delinsTAA , CM000677.2:g.68218487_68218489delinsTAA	GRCh38
NC_000015.9:g.68510825_68510827delinsTAA , CM000677.1:g.68510825_68510827delinsTAA	GRCh37
NC_000015.8:g.66297879_66297881delinsTAA	NCBI36
NG_008764.2:g.43723_43725delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.198+47_198+49delinsTTA MANE Select	ENSP00000249806.5:n.198+47_198+49delinsTTA
ENST00000562767.2:c.83+11013_83+11015delinsTTA	ENSP00000456336.1:n.83+11013_83+11015delinsTTA
ENST00000563917.2:n.41-4101_41-4099delinsTTA
ENST00000565471.6:c.84-8730_84-8728delinsTTA	ENSP00000457384.1:n.84-8730_84-8728delinsTTA
ENST00000569336.2:n.154_156delinsTTA
ENST00000635747.1:c.*101+47_*101+49delinsTTA	ENSP00000490627.1:n.*101+47_*101+49delinsTTA
ENST00000636020.1:n.330+47_330+49delinsTTA
ENST00000636212.1:c.198+47_198+49delinsTTA	ENSP00000489851.1:n.198+47_198+49delinsTTA
ENST00000636314.1:c.84-4101_84-4099delinsTTA	ENSP00000490295.1:n.84-4101_84-4099delinsTTA
ENST00000637054.1:c.198+47_198+49delinsTTA	ENSP00000490807.1:n.198+47_198+49delinsTTA
ENST00000637223.1:c.*101+47_*101+49delinsTTA	ENSP00000490010.1:n.*101+47_*101+49delinsTTA
ENST00000637329.1:c.109+47_109+49delinsTTA
ENST00000637450.1:c.84-4101_84-4099delinsTTA	ENSP00000490204.1:n.84-4101_84-4099delinsTTA
ENST00000637494.1:c.198+47_198+49delinsTTA	ENSP00000490057.1:n.198+47_198+49delinsTTA
ENST00000637667.1:c.198+47_198+49delinsTTA	ENSP00000489843.1:n.198+47_198+49delinsTTA
ENST00000637823.1:c.124+47_124+49delinsTTA
ENST00000637888.1:c.198+47_198+49delinsTTA	ENSP00000490546.1:n.198+47_198+49delinsTTA
ENST00000638076.1:c.198+47_198+49delinsTTA	ENSP00000490373.1:n.198+47_198+49delinsTTA
ENST00000638144.1:n.31-4101_31-4099delinsTTA
ENST00000646164.1:c.38+47_38+49delinsTTA
ENST00000249806.9:c.198+47_198+49delinsTTA	ENSP00000249806.5:n.198+47_198+49delinsTTA
ENST00000538696.5:c.294+47_294+49delinsTTA	ENSP00000445770.1:n.294+47_294+49delinsTTA
ENST00000562767.1:c.83+11013_83+11015delinsTTA	ENSP00000456336.1:n.83+11013_83+11015delinsTTA
ENST00000564752.1:c.198+47_198+49delinsTTA	ENSP00000457822.1:n.198+47_198+49delinsTTA
ENST00000564846.1:n.630+47_630+49delinsTTA
ENST00000565471.5:c.84-8730_84-8728delinsTTA	ENSP00000457384.1:n.84-8730_84-8728delinsTTA
ENST00000566347.5:c.198+47_198+49delinsTTA	ENSP00000457783.1:n.198+47_198+49delinsTTA
ENST00000567060.5:c.198+47_198+49delinsTTA	ENSP00000454818.1:n.198+47_198+49delinsTTA
ENST00000569336.1:n.331_333delinsTTA
NM_017882.2:c.198+47_198+49delinsTTA	NP_060352.1:n.198+47_198+49delinsTTA
XR_931861.1:n.301+47_301+49delinsTTA
NM_017882.3:c.198+47_198+49delinsTTA MANE Select	NP_060352.1:n.198+47_198+49delinsTTA