Canonical Allele Identifier: CA2575771195

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218672_68218673del , CM000677.2:g.68218672_68218673del	GRCh38
NC_000015.9:g.68511010_68511011del , CM000677.1:g.68511010_68511011del	GRCh37
NC_000015.8:g.66298064_66298065del	NCBI36
NG_008764.2:g.43543_43544del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.84-19_84-18del MANE Select	ENSP00000249806.5:n.84-19_84-18del
ENST00000562767.2:c.83+10833_83+10834del	ENSP00000456336.1:n.83+10833_83+10834del
ENST00000563917.2:n.41-4281_41-4280del
ENST00000565471.6:c.84-8910_84-8909del	ENSP00000457384.1:n.84-8910_84-8909del
ENST00000635747.1:c.173-19_173-18del	ENSP00000490627.1:n.173-19_173-18del
ENST00000636020.1:n.216-19_216-18del
ENST00000636212.1:c.84-19_84-18del	ENSP00000489851.1:n.84-19_84-18del
ENST00000636314.1:c.84-4281_84-4280del	ENSP00000490295.1:n.84-4281_84-4280del
ENST00000636876.1:c.*104-19_*104-18del	ENSP00000489950.1:n.*104-19_*104-18del
ENST00000637054.1:c.84-19_84-18del	ENSP00000490807.1:n.84-19_84-18del
ENST00000637223.1:c.173-19_173-18del	ENSP00000490010.1:n.173-19_173-18del
ENST00000637450.1:c.84-4281_84-4280del	ENSP00000490204.1:n.84-4281_84-4280del
ENST00000637494.1:c.84-19_84-18del	ENSP00000490057.1:n.84-19_84-18del
ENST00000637667.1:c.84-19_84-18del	ENSP00000489843.1:n.84-19_84-18del
ENST00000637823.1:c.10-19_10-18del
ENST00000637888.1:c.84-19_84-18del	ENSP00000490546.1:n.84-19_84-18del
ENST00000638076.1:c.84-19_84-18del	ENSP00000490373.1:n.84-19_84-18del
ENST00000638144.1:n.31-4281_31-4280del
ENST00000249806.9:c.84-19_84-18del	ENSP00000249806.5:n.84-19_84-18del
ENST00000538696.5:c.180-19_180-18del	ENSP00000445770.1:n.180-19_180-18del
ENST00000562767.1:c.83+10833_83+10834del	ENSP00000456336.1:n.83+10833_83+10834del
ENST00000564752.1:c.84-19_84-18del	ENSP00000457822.1:n.84-19_84-18del
ENST00000564846.1:n.516-19_516-18del
ENST00000565471.5:c.84-8910_84-8909del	ENSP00000457384.1:n.84-8910_84-8909del
ENST00000566347.5:c.84-19_84-18del	ENSP00000457783.1:n.84-19_84-18del
ENST00000567060.5:c.84-19_84-18del	ENSP00000454818.1:n.84-19_84-18del
ENST00000569336.1:n.170-19_170-18del
NM_017882.2:c.84-19_84-18del	NP_060352.1:n.84-19_84-18del
XR_931861.1:n.187-19_187-18del
NM_017882.3:c.84-19_84-18del MANE Select	NP_060352.1:n.84-19_84-18del