Canonical Allele Identifier: CA2184879796

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209800_68209801delinsGC , CM000677.2:g.68209800_68209801delinsGC	GRCh38
NC_000015.9:g.68502138_68502139delinsGC , CM000677.1:g.68502138_68502139delinsGC	GRCh37
NC_000015.8:g.66289192_66289193delinsGC	NCBI36
NG_008764.2:g.52411_52412delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-42_543-41delinsGC MANE Select	ENSP00000249806.5:n.543-42_543-41delinsGC
ENST00000562767.2:c.84-12173_84-12172delinsGC	ENSP00000456336.1:n.84-12173_84-12172delinsGC
ENST00000563917.2:n.385-42_385-41delinsGC
ENST00000565471.6:c.84-42_84-41delinsGC	ENSP00000457384.1:n.84-42_84-41delinsGC
ENST00000635747.1:c.*446-42_*446-41delinsGC	ENSP00000490627.1:n.*446-42_*446-41delinsGC
ENST00000636212.1:c.*213-42_*213-41delinsGC	ENSP00000489851.1:n.*213-42_*213-41delinsGC
ENST00000636314.1:c.239-42_239-41delinsGC	ENSP00000490295.1:n.239-42_239-41delinsGC
ENST00000636674.1:n.1645-42_1645-41delinsGC
ENST00000636964.1:n.2071-42_2071-41delinsGC
ENST00000637054.1:c.198+8735_198+8736delinsGC	ENSP00000490807.1:n.198+8735_198+8736delinsGC
ENST00000637223.1:c.*257-42_*257-41delinsGC	ENSP00000490010.1:n.*257-42_*257-41delinsGC
ENST00000637329.1:c.512-42_512-41delinsGC
ENST00000637450.1:c.*197-42_*197-41delinsGC	ENSP00000490204.1:n.*197-42_*197-41delinsGC
ENST00000637494.1:c.255-42_255-41delinsGC	ENSP00000490057.1:n.255-42_255-41delinsGC
ENST00000637667.1:c.444-42_444-41delinsGC	ENSP00000489843.1:n.444-42_444-41delinsGC
ENST00000637823.1:c.368-42_368-41delinsGC
ENST00000637888.1:c.198+8735_198+8736delinsGC	ENSP00000490546.1:n.198+8735_198+8736delinsGC
ENST00000638076.1:c.*146-42_*146-41delinsGC	ENSP00000490373.1:n.*146-42_*146-41delinsGC
ENST00000638144.1:n.186-42_186-41delinsGC
ENST00000646164.1:c.38+8735_38+8736delinsGC
ENST00000249806.9:c.543-42_543-41delinsGC	ENSP00000249806.5:n.543-42_543-41delinsGC
ENST00000538696.5:c.639-42_639-41delinsGC	ENSP00000445770.1:n.639-42_639-41delinsGC
ENST00000562767.1:c.84-12173_84-12172delinsGC	ENSP00000456336.1:n.84-12173_84-12172delinsGC
ENST00000563917.1:n.443-42_443-41delinsGC
ENST00000564752.1:c.569-42_569-41delinsGC	ENSP00000457822.1:n.569-42_569-41delinsGC
ENST00000565471.5:c.84-42_84-41delinsGC	ENSP00000457384.1:n.84-42_84-41delinsGC
ENST00000566347.5:c.354-42_354-41delinsGC	ENSP00000457783.1:n.354-42_354-41delinsGC
ENST00000567060.5:c.298-81_298-80delinsGC	ENSP00000454818.1:n.298-81_298-80delinsGC
NM_017882.2:c.543-42_543-41delinsGC	NP_060352.1:n.543-42_543-41delinsGC
XR_931861.1:n.765-42_765-41delinsGC
NM_017882.3:c.543-42_543-41delinsGC MANE Select	NP_060352.1:n.543-42_543-41delinsGC