Canonical Allele Identifier: CA2804591337

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211982_68211985del , CM000677.2:g.68211982_68211985del	GRCh38
NC_000015.9:g.68504320_68504323del , CM000677.1:g.68504320_68504323del	GRCh37
NC_000015.8:g.66291374_66291377del	NCBI36
NG_008764.2:g.50228_50231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-121_298-118del MANE Select	ENSP00000249806.5:n.298-121_298-118del
ENST00000562767.2:c.84-14356_84-14353del	ENSP00000456336.1:n.84-14356_84-14353del
ENST00000563917.2:n.140-121_140-118del
ENST00000565471.6:c.84-2225_84-2222del	ENSP00000457384.1:n.84-2225_84-2222del
ENST00000635747.1:c.*201-121_*201-118del	ENSP00000490627.1:n.*201-121_*201-118del
ENST00000636212.1:c.298-243_298-240del	ENSP00000489851.1:n.298-243_298-240del
ENST00000636314.1:c.183-666_183-663del	ENSP00000490295.1:n.183-666_183-663del
ENST00000636674.1:n.1160_1163del
ENST00000636964.1:n.1349_1352del
ENST00000637054.1:c.198+6552_198+6555del	ENSP00000490807.1:n.198+6552_198+6555del
ENST00000637223.1:c.*201-666_*201-663del	ENSP00000490010.1:n.*201-666_*201-663del
ENST00000637329.1:c.209-63_209-60del
ENST00000637450.1:c.183-121_183-118del	ENSP00000490204.1:n.183-121_183-118del
ENST00000637494.1:c.199-666_199-663del	ENSP00000490057.1:n.199-666_199-663del
ENST00000637667.1:c.199-121_199-118del	ENSP00000489843.1:n.199-121_199-118del
ENST00000637823.1:c.224-341_224-338del
ENST00000637888.1:c.198+6552_198+6555del	ENSP00000490546.1:n.198+6552_198+6555del
ENST00000638076.1:c.298-121_298-118del	ENSP00000490373.1:n.298-121_298-118del
ENST00000638144.1:n.130-666_130-663del
ENST00000646164.1:c.38+6552_38+6555del
ENST00000249806.9:c.298-121_298-118del	ENSP00000249806.5:n.298-121_298-118del
ENST00000538696.5:c.394-121_394-118del	ENSP00000445770.1:n.394-121_394-118del
ENST00000562767.1:c.84-14356_84-14353del	ENSP00000456336.1:n.84-14356_84-14353del
ENST00000563917.1:n.79-121_79-118del
ENST00000564752.1:c.298-121_298-118del	ENSP00000457822.1:n.298-121_298-118del
ENST00000565471.5:c.84-2225_84-2222del	ENSP00000457384.1:n.84-2225_84-2222del
ENST00000566347.5:c.298-666_298-663del	ENSP00000457783.1:n.298-666_298-663del
ENST00000567060.5:c.298-2264_298-2261del	ENSP00000454818.1:n.298-2264_298-2261del
NM_017882.2:c.298-121_298-118del	NP_060352.1:n.298-121_298-118del
XR_931861.1:n.401-121_401-118del
NM_017882.3:c.298-121_298-118del MANE Select	NP_060352.1:n.298-121_298-118del