Canonical Allele Identifier: CA2804591139

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211498_68211580del , CM000677.2:g.68211498_68211580del	GRCh38
NC_000015.9:g.68503836_68503918del , CM000677.1:g.68503836_68503918del	GRCh37
NC_000015.8:g.66290890_66290972del	NCBI36
NG_008764.2:g.50633_50715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+96_487-179del MANE Select	ENSP00000249806.5:n.486+96_487-179del
ENST00000562767.2:c.84-13951_84-13869del	ENSP00000456336.1:n.84-13951_84-13869del
ENST00000563917.2:n.328+96_329-179del
ENST00000565471.6:c.84-1820_84-1738del	ENSP00000457384.1:n.84-1820_84-1738del
ENST00000635747.1:c.*389+96_*390-179del	ENSP00000490627.1:n.*389+96_*390-179del
ENST00000636212.1:c.*133_*156+59del
ENST00000636314.1:c.183-261_183-179del	ENSP00000490295.1:n.183-261_183-179del
ENST00000636674.1:n.1565_1588+59del
ENST00000636964.1:n.1754_1836del
ENST00000637054.1:c.198+6957_198+7039del	ENSP00000490807.1:n.198+6957_198+7039del
ENST00000637223.1:c.*201-261_*201-179del	ENSP00000490010.1:n.*201-261_*201-179del
ENST00000637329.1:c.455+96_456-179del
ENST00000637450.1:c.*140+96_*141-179del	ENSP00000490204.1:n.*140+96_*141-179del
ENST00000637494.1:c.199-261_199-179del	ENSP00000490057.1:n.199-261_199-179del
ENST00000637667.1:c.387+96_388-179del	ENSP00000489843.1:n.387+96_388-179del
ENST00000637823.1:c.288_311+59del
ENST00000637888.1:c.198+6957_198+7039del	ENSP00000490546.1:n.198+6957_198+7039del
ENST00000638076.1:c.*66_*89+59del
ENST00000638144.1:n.130-261_130-179del
ENST00000646164.1:c.38+6957_38+7039del
ENST00000249806.9:c.486+96_487-179del	ENSP00000249806.5:n.486+96_487-179del
ENST00000538696.5:c.582+96_583-179del	ENSP00000445770.1:n.582+96_583-179del
ENST00000562767.1:c.84-13951_84-13869del	ENSP00000456336.1:n.84-13951_84-13869del
ENST00000563917.1:n.363_386+59del
ENST00000564752.1:c.512+70_512+152del	ENSP00000457822.1:n.512+70_512+152del
ENST00000565471.5:c.84-1820_84-1738del	ENSP00000457384.1:n.84-1820_84-1738del
ENST00000566347.5:c.298-261_298-179del	ENSP00000457783.1:n.298-261_298-179del
ENST00000567060.5:c.298-1859_298-1777del	ENSP00000454818.1:n.298-1859_298-1777del
NM_017882.2:c.486+96_487-179del	NP_060352.1:n.486+96_487-179del
XR_931861.1:n.685_708+59del
NM_017882.3:c.486+96_487-179del MANE Select	NP_060352.1:n.486+96_487-179del