Canonical Allele Identifier: CA2804592586

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209879_68209887del , CM000677.2:g.68209879_68209887del	GRCh38
NC_000015.9:g.68502217_68502225del , CM000677.1:g.68502217_68502225del	GRCh37
NC_000015.8:g.66289271_66289279del	NCBI36
NG_008764.2:g.52325_52333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-128_543-120del MANE Select	ENSP00000249806.5:n.543-128_543-120del
ENST00000562767.2:c.84-12259_84-12251del	ENSP00000456336.1:n.84-12259_84-12251del
ENST00000563917.2:n.385-128_385-120del
ENST00000565471.6:c.84-128_84-120del	ENSP00000457384.1:n.84-128_84-120del
ENST00000635747.1:c.*446-128_*446-120del	ENSP00000490627.1:n.*446-128_*446-120del
ENST00000636212.1:c.*213-128_*213-120del	ENSP00000489851.1:n.*213-128_*213-120del
ENST00000636314.1:c.239-128_239-120del	ENSP00000490295.1:n.239-128_239-120del
ENST00000636674.1:n.1645-128_1645-120del
ENST00000636964.1:n.2071-128_2071-120del
ENST00000637054.1:c.198+8649_198+8657del	ENSP00000490807.1:n.198+8649_198+8657del
ENST00000637223.1:c.*257-128_*257-120del	ENSP00000490010.1:n.*257-128_*257-120del
ENST00000637329.1:c.512-128_512-120del
ENST00000637450.1:c.*197-128_*197-120del	ENSP00000490204.1:n.*197-128_*197-120del
ENST00000637494.1:c.255-128_255-120del	ENSP00000490057.1:n.255-128_255-120del
ENST00000637667.1:c.444-128_444-120del	ENSP00000489843.1:n.444-128_444-120del
ENST00000637823.1:c.368-128_368-120del
ENST00000637888.1:c.198+8649_198+8657del	ENSP00000490546.1:n.198+8649_198+8657del
ENST00000638076.1:c.*146-128_*146-120del	ENSP00000490373.1:n.*146-128_*146-120del
ENST00000638144.1:n.186-128_186-120del
ENST00000646164.1:c.38+8649_38+8657del
ENST00000249806.9:c.543-128_543-120del	ENSP00000249806.5:n.543-128_543-120del
ENST00000538696.5:c.639-128_639-120del	ENSP00000445770.1:n.639-128_639-120del
ENST00000562767.1:c.84-12259_84-12251del	ENSP00000456336.1:n.84-12259_84-12251del
ENST00000563917.1:n.443-128_443-120del
ENST00000564752.1:c.569-128_569-120del	ENSP00000457822.1:n.569-128_569-120del
ENST00000565471.5:c.84-128_84-120del	ENSP00000457384.1:n.84-128_84-120del
ENST00000566347.5:c.354-128_354-120del	ENSP00000457783.1:n.354-128_354-120del
ENST00000567060.5:c.298-167_298-159del	ENSP00000454818.1:n.298-167_298-159del
NM_017882.2:c.543-128_543-120del	NP_060352.1:n.543-128_543-120del
XR_931861.1:n.765-128_765-120del
NM_017882.3:c.543-128_543-120del MANE Select	NP_060352.1:n.543-128_543-120del