Canonical Allele Identifier: CA2804592667

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209946_68209948del , CM000677.2:g.68209946_68209948del	GRCh38
NC_000015.9:g.68502284_68502286del , CM000677.1:g.68502284_68502286del	GRCh37
NC_000015.8:g.66289338_66289340del	NCBI36
NG_008764.2:g.52265_52267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-188_543-186del MANE Select	ENSP00000249806.5:n.543-188_543-186del
ENST00000562767.2:c.84-12319_84-12317del	ENSP00000456336.1:n.84-12319_84-12317del
ENST00000563917.2:n.385-188_385-186del
ENST00000565471.6:c.84-188_84-186del	ENSP00000457384.1:n.84-188_84-186del
ENST00000635747.1:c.*446-188_*446-186del	ENSP00000490627.1:n.*446-188_*446-186del
ENST00000636212.1:c.*213-188_*213-186del	ENSP00000489851.1:n.*213-188_*213-186del
ENST00000636314.1:c.239-188_239-186del	ENSP00000490295.1:n.239-188_239-186del
ENST00000636674.1:n.1645-188_1645-186del
ENST00000636964.1:n.2071-188_2071-186del
ENST00000637054.1:c.198+8589_198+8591del	ENSP00000490807.1:n.198+8589_198+8591del
ENST00000637223.1:c.*257-188_*257-186del	ENSP00000490010.1:n.*257-188_*257-186del
ENST00000637329.1:c.512-188_512-186del
ENST00000637450.1:c.*197-188_*197-186del	ENSP00000490204.1:n.*197-188_*197-186del
ENST00000637494.1:c.255-188_255-186del	ENSP00000490057.1:n.255-188_255-186del
ENST00000637667.1:c.444-188_444-186del	ENSP00000489843.1:n.444-188_444-186del
ENST00000637823.1:c.368-188_368-186del
ENST00000637888.1:c.198+8589_198+8591del	ENSP00000490546.1:n.198+8589_198+8591del
ENST00000638076.1:c.*146-188_*146-186del	ENSP00000490373.1:n.*146-188_*146-186del
ENST00000638144.1:n.186-188_186-186del
ENST00000646164.1:c.38+8589_38+8591del
ENST00000249806.9:c.543-188_543-186del	ENSP00000249806.5:n.543-188_543-186del
ENST00000538696.5:c.639-188_639-186del	ENSP00000445770.1:n.639-188_639-186del
ENST00000562767.1:c.84-12319_84-12317del	ENSP00000456336.1:n.84-12319_84-12317del
ENST00000563917.1:n.443-188_443-186del
ENST00000564752.1:c.569-188_569-186del	ENSP00000457822.1:n.569-188_569-186del
ENST00000565471.5:c.84-188_84-186del	ENSP00000457384.1:n.84-188_84-186del
ENST00000566347.5:c.354-188_354-186del	ENSP00000457783.1:n.354-188_354-186del
ENST00000567060.5:c.298-227_298-225del	ENSP00000454818.1:n.298-227_298-225del
NM_017882.2:c.543-188_543-186del	NP_060352.1:n.543-188_543-186del
XR_931861.1:n.765-188_765-186del
NM_017882.3:c.543-188_543-186del MANE Select	NP_060352.1:n.543-188_543-186del