Canonical Allele Identifier: CA2804591352

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211999_68212000del , CM000677.2:g.68211999_68212000del	GRCh38
NC_000015.9:g.68504337_68504338del , CM000677.1:g.68504337_68504338del	GRCh37
NC_000015.8:g.66291391_66291392del	NCBI36
NG_008764.2:g.50213_50214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-136_298-135del MANE Select	ENSP00000249806.5:n.298-136_298-135del
ENST00000562767.2:c.84-14371_84-14370del	ENSP00000456336.1:n.84-14371_84-14370del
ENST00000563917.2:n.140-136_140-135del
ENST00000565471.6:c.84-2240_84-2239del	ENSP00000457384.1:n.84-2240_84-2239del
ENST00000635747.1:c.*201-136_*201-135del	ENSP00000490627.1:n.*201-136_*201-135del
ENST00000636212.1:c.298-258_298-257del	ENSP00000489851.1:n.298-258_298-257del
ENST00000636314.1:c.183-681_183-680del	ENSP00000490295.1:n.183-681_183-680del
ENST00000636674.1:n.1145_1146del
ENST00000636964.1:n.1334_1335del
ENST00000637054.1:c.198+6537_198+6538del	ENSP00000490807.1:n.198+6537_198+6538del
ENST00000637223.1:c.*201-681_*201-680del	ENSP00000490010.1:n.*201-681_*201-680del
ENST00000637329.1:c.209-78_209-77del
ENST00000637450.1:c.183-136_183-135del	ENSP00000490204.1:n.183-136_183-135del
ENST00000637494.1:c.199-681_199-680del	ENSP00000490057.1:n.199-681_199-680del
ENST00000637667.1:c.199-136_199-135del	ENSP00000489843.1:n.199-136_199-135del
ENST00000637823.1:c.224-356_224-355del
ENST00000637888.1:c.198+6537_198+6538del	ENSP00000490546.1:n.198+6537_198+6538del
ENST00000638076.1:c.298-136_298-135del	ENSP00000490373.1:n.298-136_298-135del
ENST00000638144.1:n.130-681_130-680del
ENST00000646164.1:c.38+6537_38+6538del
ENST00000249806.9:c.298-136_298-135del	ENSP00000249806.5:n.298-136_298-135del
ENST00000538696.5:c.394-136_394-135del	ENSP00000445770.1:n.394-136_394-135del
ENST00000562767.1:c.84-14371_84-14370del	ENSP00000456336.1:n.84-14371_84-14370del
ENST00000563917.1:n.79-136_79-135del
ENST00000564752.1:c.298-136_298-135del	ENSP00000457822.1:n.298-136_298-135del
ENST00000565471.5:c.84-2240_84-2239del	ENSP00000457384.1:n.84-2240_84-2239del
ENST00000566347.5:c.298-681_298-680del	ENSP00000457783.1:n.298-681_298-680del
ENST00000567060.5:c.298-2279_298-2278del	ENSP00000454818.1:n.298-2279_298-2278del
NM_017882.2:c.298-136_298-135del	NP_060352.1:n.298-136_298-135del
XR_931861.1:n.401-136_401-135del
NM_017882.3:c.298-136_298-135del MANE Select	NP_060352.1:n.298-136_298-135del