Canonical Allele Identifier: CA2804592627

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209919_68209925del , CM000677.2:g.68209919_68209925del	GRCh38
NC_000015.9:g.68502257_68502263del , CM000677.1:g.68502257_68502263del	GRCh37
NC_000015.8:g.66289311_66289317del	NCBI36
NG_008764.2:g.52288_52294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-165_543-159del MANE Select	ENSP00000249806.5:n.543-165_543-159del
ENST00000562767.2:c.84-12296_84-12290del	ENSP00000456336.1:n.84-12296_84-12290del
ENST00000563917.2:n.385-165_385-159del
ENST00000565471.6:c.84-165_84-159del	ENSP00000457384.1:n.84-165_84-159del
ENST00000635747.1:c.*446-165_*446-159del	ENSP00000490627.1:n.*446-165_*446-159del
ENST00000636212.1:c.*213-165_*213-159del	ENSP00000489851.1:n.*213-165_*213-159del
ENST00000636314.1:c.239-165_239-159del	ENSP00000490295.1:n.239-165_239-159del
ENST00000636674.1:n.1645-165_1645-159del
ENST00000636964.1:n.2071-165_2071-159del
ENST00000637054.1:c.198+8612_198+8618del	ENSP00000490807.1:n.198+8612_198+8618del
ENST00000637223.1:c.*257-165_*257-159del	ENSP00000490010.1:n.*257-165_*257-159del
ENST00000637329.1:c.512-165_512-159del
ENST00000637450.1:c.*197-165_*197-159del	ENSP00000490204.1:n.*197-165_*197-159del
ENST00000637494.1:c.255-165_255-159del	ENSP00000490057.1:n.255-165_255-159del
ENST00000637667.1:c.444-165_444-159del	ENSP00000489843.1:n.444-165_444-159del
ENST00000637823.1:c.368-165_368-159del
ENST00000637888.1:c.198+8612_198+8618del	ENSP00000490546.1:n.198+8612_198+8618del
ENST00000638076.1:c.*146-165_*146-159del	ENSP00000490373.1:n.*146-165_*146-159del
ENST00000638144.1:n.186-165_186-159del
ENST00000646164.1:c.38+8612_38+8618del
ENST00000249806.9:c.543-165_543-159del	ENSP00000249806.5:n.543-165_543-159del
ENST00000538696.5:c.639-165_639-159del	ENSP00000445770.1:n.639-165_639-159del
ENST00000562767.1:c.84-12296_84-12290del	ENSP00000456336.1:n.84-12296_84-12290del
ENST00000563917.1:n.443-165_443-159del
ENST00000564752.1:c.569-165_569-159del	ENSP00000457822.1:n.569-165_569-159del
ENST00000565471.5:c.84-165_84-159del	ENSP00000457384.1:n.84-165_84-159del
ENST00000566347.5:c.354-165_354-159del	ENSP00000457783.1:n.354-165_354-159del
ENST00000567060.5:c.298-204_298-198del	ENSP00000454818.1:n.298-204_298-198del
NM_017882.2:c.543-165_543-159del	NP_060352.1:n.543-165_543-159del
XR_931861.1:n.765-165_765-159del
NM_017882.3:c.543-165_543-159del MANE Select	NP_060352.1:n.543-165_543-159del