Canonical Allele Identifier: CA2804591323

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211973_68211975del , CM000677.2:g.68211973_68211975del	GRCh38
NC_000015.9:g.68504311_68504313del , CM000677.1:g.68504311_68504313del	GRCh37
NC_000015.8:g.66291365_66291367del	NCBI36
NG_008764.2:g.50237_50239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-112_298-110del MANE Select	ENSP00000249806.5:n.298-112_298-110del
ENST00000562767.2:c.84-14347_84-14345del	ENSP00000456336.1:n.84-14347_84-14345del
ENST00000563917.2:n.140-112_140-110del
ENST00000565471.6:c.84-2216_84-2214del	ENSP00000457384.1:n.84-2216_84-2214del
ENST00000635747.1:c.*201-112_*201-110del	ENSP00000490627.1:n.*201-112_*201-110del
ENST00000636212.1:c.298-234_298-232del	ENSP00000489851.1:n.298-234_298-232del
ENST00000636314.1:c.183-657_183-655del	ENSP00000490295.1:n.183-657_183-655del
ENST00000636674.1:n.1169_1171del
ENST00000636964.1:n.1358_1360del
ENST00000637054.1:c.198+6561_198+6563del	ENSP00000490807.1:n.198+6561_198+6563del
ENST00000637223.1:c.*201-657_*201-655del	ENSP00000490010.1:n.*201-657_*201-655del
ENST00000637329.1:c.209-54_209-52del
ENST00000637450.1:c.183-112_183-110del	ENSP00000490204.1:n.183-112_183-110del
ENST00000637494.1:c.199-657_199-655del	ENSP00000490057.1:n.199-657_199-655del
ENST00000637667.1:c.199-112_199-110del	ENSP00000489843.1:n.199-112_199-110del
ENST00000637823.1:c.224-332_224-330del
ENST00000637888.1:c.198+6561_198+6563del	ENSP00000490546.1:n.198+6561_198+6563del
ENST00000638076.1:c.298-112_298-110del	ENSP00000490373.1:n.298-112_298-110del
ENST00000638144.1:n.130-657_130-655del
ENST00000646164.1:c.38+6561_38+6563del
ENST00000249806.9:c.298-112_298-110del	ENSP00000249806.5:n.298-112_298-110del
ENST00000538696.5:c.394-112_394-110del	ENSP00000445770.1:n.394-112_394-110del
ENST00000562767.1:c.84-14347_84-14345del	ENSP00000456336.1:n.84-14347_84-14345del
ENST00000563917.1:n.79-112_79-110del
ENST00000564752.1:c.298-112_298-110del	ENSP00000457822.1:n.298-112_298-110del
ENST00000565471.5:c.84-2216_84-2214del	ENSP00000457384.1:n.84-2216_84-2214del
ENST00000566347.5:c.298-657_298-655del	ENSP00000457783.1:n.298-657_298-655del
ENST00000567060.5:c.298-2255_298-2253del	ENSP00000454818.1:n.298-2255_298-2253del
NM_017882.2:c.298-112_298-110del	NP_060352.1:n.298-112_298-110del
XR_931861.1:n.401-112_401-110del
NM_017882.3:c.298-112_298-110del MANE Select	NP_060352.1:n.298-112_298-110del