Canonical Allele Identifier: CA2804591339

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211984_68211987del , CM000677.2:g.68211984_68211987del	GRCh38
NC_000015.9:g.68504322_68504325del , CM000677.1:g.68504322_68504325del	GRCh37
NC_000015.8:g.66291376_66291379del	NCBI36
NG_008764.2:g.50225_50228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-124_298-121del MANE Select	ENSP00000249806.5:n.298-124_298-121del
ENST00000562767.2:c.84-14359_84-14356del	ENSP00000456336.1:n.84-14359_84-14356del
ENST00000563917.2:n.140-124_140-121del
ENST00000565471.6:c.84-2228_84-2225del	ENSP00000457384.1:n.84-2228_84-2225del
ENST00000635747.1:c.*201-124_*201-121del	ENSP00000490627.1:n.*201-124_*201-121del
ENST00000636212.1:c.298-246_298-243del	ENSP00000489851.1:n.298-246_298-243del
ENST00000636314.1:c.183-669_183-666del	ENSP00000490295.1:n.183-669_183-666del
ENST00000636674.1:n.1157_1160del
ENST00000636964.1:n.1346_1349del
ENST00000637054.1:c.198+6549_198+6552del	ENSP00000490807.1:n.198+6549_198+6552del
ENST00000637223.1:c.*201-669_*201-666del	ENSP00000490010.1:n.*201-669_*201-666del
ENST00000637329.1:c.209-66_209-63del
ENST00000637450.1:c.183-124_183-121del	ENSP00000490204.1:n.183-124_183-121del
ENST00000637494.1:c.199-669_199-666del	ENSP00000490057.1:n.199-669_199-666del
ENST00000637667.1:c.199-124_199-121del	ENSP00000489843.1:n.199-124_199-121del
ENST00000637823.1:c.224-344_224-341del
ENST00000637888.1:c.198+6549_198+6552del	ENSP00000490546.1:n.198+6549_198+6552del
ENST00000638076.1:c.298-124_298-121del	ENSP00000490373.1:n.298-124_298-121del
ENST00000638144.1:n.130-669_130-666del
ENST00000646164.1:c.38+6549_38+6552del
ENST00000249806.9:c.298-124_298-121del	ENSP00000249806.5:n.298-124_298-121del
ENST00000538696.5:c.394-124_394-121del	ENSP00000445770.1:n.394-124_394-121del
ENST00000562767.1:c.84-14359_84-14356del	ENSP00000456336.1:n.84-14359_84-14356del
ENST00000563917.1:n.79-124_79-121del
ENST00000564752.1:c.298-124_298-121del	ENSP00000457822.1:n.298-124_298-121del
ENST00000565471.5:c.84-2228_84-2225del	ENSP00000457384.1:n.84-2228_84-2225del
ENST00000566347.5:c.298-669_298-666del	ENSP00000457783.1:n.298-669_298-666del
ENST00000567060.5:c.298-2267_298-2264del	ENSP00000454818.1:n.298-2267_298-2264del
NM_017882.2:c.298-124_298-121del	NP_060352.1:n.298-124_298-121del
XR_931861.1:n.401-124_401-121del
NM_017882.3:c.298-124_298-121del MANE Select	NP_060352.1:n.298-124_298-121del