Canonical Allele Identifier: CA2804591331

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211978_68211982del , CM000677.2:g.68211978_68211982del	GRCh38
NC_000015.9:g.68504316_68504320del , CM000677.1:g.68504316_68504320del	GRCh37
NC_000015.8:g.66291370_66291374del	NCBI36
NG_008764.2:g.50230_50234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-119_298-115del MANE Select	ENSP00000249806.5:n.298-119_298-115del
ENST00000562767.2:c.84-14354_84-14350del	ENSP00000456336.1:n.84-14354_84-14350del
ENST00000563917.2:n.140-119_140-115del
ENST00000565471.6:c.84-2223_84-2219del	ENSP00000457384.1:n.84-2223_84-2219del
ENST00000635747.1:c.*201-119_*201-115del	ENSP00000490627.1:n.*201-119_*201-115del
ENST00000636212.1:c.298-241_298-237del	ENSP00000489851.1:n.298-241_298-237del
ENST00000636314.1:c.183-664_183-660del	ENSP00000490295.1:n.183-664_183-660del
ENST00000636674.1:n.1162_1166del
ENST00000636964.1:n.1351_1355del
ENST00000637054.1:c.198+6554_198+6558del	ENSP00000490807.1:n.198+6554_198+6558del
ENST00000637223.1:c.*201-664_*201-660del	ENSP00000490010.1:n.*201-664_*201-660del
ENST00000637329.1:c.209-61_209-57del
ENST00000637450.1:c.183-119_183-115del	ENSP00000490204.1:n.183-119_183-115del
ENST00000637494.1:c.199-664_199-660del	ENSP00000490057.1:n.199-664_199-660del
ENST00000637667.1:c.199-119_199-115del	ENSP00000489843.1:n.199-119_199-115del
ENST00000637823.1:c.224-339_224-335del
ENST00000637888.1:c.198+6554_198+6558del	ENSP00000490546.1:n.198+6554_198+6558del
ENST00000638076.1:c.298-119_298-115del	ENSP00000490373.1:n.298-119_298-115del
ENST00000638144.1:n.130-664_130-660del
ENST00000646164.1:c.38+6554_38+6558del
ENST00000249806.9:c.298-119_298-115del	ENSP00000249806.5:n.298-119_298-115del
ENST00000538696.5:c.394-119_394-115del	ENSP00000445770.1:n.394-119_394-115del
ENST00000562767.1:c.84-14354_84-14350del	ENSP00000456336.1:n.84-14354_84-14350del
ENST00000563917.1:n.79-119_79-115del
ENST00000564752.1:c.298-119_298-115del	ENSP00000457822.1:n.298-119_298-115del
ENST00000565471.5:c.84-2223_84-2219del	ENSP00000457384.1:n.84-2223_84-2219del
ENST00000566347.5:c.298-664_298-660del	ENSP00000457783.1:n.298-664_298-660del
ENST00000567060.5:c.298-2262_298-2258del	ENSP00000454818.1:n.298-2262_298-2258del
NM_017882.2:c.298-119_298-115del	NP_060352.1:n.298-119_298-115del
XR_931861.1:n.401-119_401-115del
NM_017882.3:c.298-119_298-115del MANE Select	NP_060352.1:n.298-119_298-115del