Canonical Allele Identifier: CA2804591380

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212010_68212012del , CM000677.2:g.68212010_68212012del	GRCh38
NC_000015.9:g.68504348_68504350del , CM000677.1:g.68504348_68504350del	GRCh37
NC_000015.8:g.66291402_66291404del	NCBI36
NG_008764.2:g.50200_50202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-149_298-147del MANE Select	ENSP00000249806.5:n.298-149_298-147del
ENST00000562767.2:c.84-14384_84-14382del	ENSP00000456336.1:n.84-14384_84-14382del
ENST00000563917.2:n.140-149_140-147del
ENST00000565471.6:c.84-2253_84-2251del	ENSP00000457384.1:n.84-2253_84-2251del
ENST00000635747.1:c.*201-149_*201-147del	ENSP00000490627.1:n.*201-149_*201-147del
ENST00000636212.1:c.298-271_298-269del	ENSP00000489851.1:n.298-271_298-269del
ENST00000636314.1:c.183-694_183-692del	ENSP00000490295.1:n.183-694_183-692del
ENST00000636674.1:n.1132_1134del
ENST00000636964.1:n.1321_1323del
ENST00000637054.1:c.198+6524_198+6526del	ENSP00000490807.1:n.198+6524_198+6526del
ENST00000637223.1:c.*201-694_*201-692del	ENSP00000490010.1:n.*201-694_*201-692del
ENST00000637329.1:c.209-91_209-89del
ENST00000637450.1:c.183-149_183-147del	ENSP00000490204.1:n.183-149_183-147del
ENST00000637494.1:c.199-694_199-692del	ENSP00000490057.1:n.199-694_199-692del
ENST00000637667.1:c.199-149_199-147del	ENSP00000489843.1:n.199-149_199-147del
ENST00000637823.1:c.224-369_224-367del
ENST00000637888.1:c.198+6524_198+6526del	ENSP00000490546.1:n.198+6524_198+6526del
ENST00000638076.1:c.298-149_298-147del	ENSP00000490373.1:n.298-149_298-147del
ENST00000638144.1:n.130-694_130-692del
ENST00000646164.1:c.38+6524_38+6526del
ENST00000249806.9:c.298-149_298-147del	ENSP00000249806.5:n.298-149_298-147del
ENST00000538696.5:c.394-149_394-147del	ENSP00000445770.1:n.394-149_394-147del
ENST00000562767.1:c.84-14384_84-14382del	ENSP00000456336.1:n.84-14384_84-14382del
ENST00000563917.1:n.79-149_79-147del
ENST00000564752.1:c.298-149_298-147del	ENSP00000457822.1:n.298-149_298-147del
ENST00000565471.5:c.84-2253_84-2251del	ENSP00000457384.1:n.84-2253_84-2251del
ENST00000566347.5:c.298-694_298-692del	ENSP00000457783.1:n.298-694_298-692del
ENST00000567060.5:c.297+2278_297+2280del	ENSP00000454818.1:n.297+2278_297+2280del
NM_017882.2:c.298-149_298-147del	NP_060352.1:n.298-149_298-147del
XR_931861.1:n.401-149_401-147del
NM_017882.3:c.298-149_298-147del MANE Select	NP_060352.1:n.298-149_298-147del