Canonical Allele Identifier: CA2804592588

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209880_68209885del , CM000677.2:g.68209880_68209885del	GRCh38
NC_000015.9:g.68502218_68502223del , CM000677.1:g.68502218_68502223del	GRCh37
NC_000015.8:g.66289272_66289277del	NCBI36
NG_008764.2:g.52327_52332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-126_543-121del MANE Select	ENSP00000249806.5:n.543-126_543-121del
ENST00000562767.2:c.84-12257_84-12252del	ENSP00000456336.1:n.84-12257_84-12252del
ENST00000563917.2:n.385-126_385-121del
ENST00000565471.6:c.84-126_84-121del	ENSP00000457384.1:n.84-126_84-121del
ENST00000635747.1:c.*446-126_*446-121del	ENSP00000490627.1:n.*446-126_*446-121del
ENST00000636212.1:c.*213-126_*213-121del	ENSP00000489851.1:n.*213-126_*213-121del
ENST00000636314.1:c.239-126_239-121del	ENSP00000490295.1:n.239-126_239-121del
ENST00000636674.1:n.1645-126_1645-121del
ENST00000636964.1:n.2071-126_2071-121del
ENST00000637054.1:c.198+8651_198+8656del	ENSP00000490807.1:n.198+8651_198+8656del
ENST00000637223.1:c.*257-126_*257-121del	ENSP00000490010.1:n.*257-126_*257-121del
ENST00000637329.1:c.512-126_512-121del
ENST00000637450.1:c.*197-126_*197-121del	ENSP00000490204.1:n.*197-126_*197-121del
ENST00000637494.1:c.255-126_255-121del	ENSP00000490057.1:n.255-126_255-121del
ENST00000637667.1:c.444-126_444-121del	ENSP00000489843.1:n.444-126_444-121del
ENST00000637823.1:c.368-126_368-121del
ENST00000637888.1:c.198+8651_198+8656del	ENSP00000490546.1:n.198+8651_198+8656del
ENST00000638076.1:c.*146-126_*146-121del	ENSP00000490373.1:n.*146-126_*146-121del
ENST00000638144.1:n.186-126_186-121del
ENST00000646164.1:c.38+8651_38+8656del
ENST00000249806.9:c.543-126_543-121del	ENSP00000249806.5:n.543-126_543-121del
ENST00000538696.5:c.639-126_639-121del	ENSP00000445770.1:n.639-126_639-121del
ENST00000562767.1:c.84-12257_84-12252del	ENSP00000456336.1:n.84-12257_84-12252del
ENST00000563917.1:n.443-126_443-121del
ENST00000564752.1:c.569-126_569-121del	ENSP00000457822.1:n.569-126_569-121del
ENST00000565471.5:c.84-126_84-121del	ENSP00000457384.1:n.84-126_84-121del
ENST00000566347.5:c.354-126_354-121del	ENSP00000457783.1:n.354-126_354-121del
ENST00000567060.5:c.298-165_298-160del	ENSP00000454818.1:n.298-165_298-160del
NM_017882.2:c.543-126_543-121del	NP_060352.1:n.543-126_543-121del
XR_931861.1:n.765-126_765-121del
NM_017882.3:c.543-126_543-121del MANE Select	NP_060352.1:n.543-126_543-121del