Canonical Allele Identifier: CA2804592544

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209863_68209864del , CM000677.2:g.68209863_68209864del	GRCh38
NC_000015.9:g.68502201_68502202del , CM000677.1:g.68502201_68502202del	GRCh37
NC_000015.8:g.66289255_66289256del	NCBI36
NG_008764.2:g.52349_52350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-104_543-103del MANE Select	ENSP00000249806.5:n.543-104_543-103del
ENST00000562767.2:c.84-12235_84-12234del	ENSP00000456336.1:n.84-12235_84-12234del
ENST00000563917.2:n.385-104_385-103del
ENST00000565471.6:c.84-104_84-103del	ENSP00000457384.1:n.84-104_84-103del
ENST00000635747.1:c.*446-104_*446-103del	ENSP00000490627.1:n.*446-104_*446-103del
ENST00000636212.1:c.*213-104_*213-103del	ENSP00000489851.1:n.*213-104_*213-103del
ENST00000636314.1:c.239-104_239-103del	ENSP00000490295.1:n.239-104_239-103del
ENST00000636674.1:n.1645-104_1645-103del
ENST00000636964.1:n.2071-104_2071-103del
ENST00000637054.1:c.198+8673_198+8674del	ENSP00000490807.1:n.198+8673_198+8674del
ENST00000637223.1:c.*257-104_*257-103del	ENSP00000490010.1:n.*257-104_*257-103del
ENST00000637329.1:c.512-104_512-103del
ENST00000637450.1:c.*197-104_*197-103del	ENSP00000490204.1:n.*197-104_*197-103del
ENST00000637494.1:c.255-104_255-103del	ENSP00000490057.1:n.255-104_255-103del
ENST00000637667.1:c.444-104_444-103del	ENSP00000489843.1:n.444-104_444-103del
ENST00000637823.1:c.368-104_368-103del
ENST00000637888.1:c.198+8673_198+8674del	ENSP00000490546.1:n.198+8673_198+8674del
ENST00000638076.1:c.*146-104_*146-103del	ENSP00000490373.1:n.*146-104_*146-103del
ENST00000638144.1:n.186-104_186-103del
ENST00000646164.1:c.38+8673_38+8674del
ENST00000249806.9:c.543-104_543-103del	ENSP00000249806.5:n.543-104_543-103del
ENST00000538696.5:c.639-104_639-103del	ENSP00000445770.1:n.639-104_639-103del
ENST00000562767.1:c.84-12235_84-12234del	ENSP00000456336.1:n.84-12235_84-12234del
ENST00000563917.1:n.443-104_443-103del
ENST00000564752.1:c.569-104_569-103del	ENSP00000457822.1:n.569-104_569-103del
ENST00000565471.5:c.84-104_84-103del	ENSP00000457384.1:n.84-104_84-103del
ENST00000566347.5:c.354-104_354-103del	ENSP00000457783.1:n.354-104_354-103del
ENST00000567060.5:c.298-143_298-142del	ENSP00000454818.1:n.298-143_298-142del
NM_017882.2:c.543-104_543-103del	NP_060352.1:n.543-104_543-103del
XR_931861.1:n.765-104_765-103del
NM_017882.3:c.543-104_543-103del MANE Select	NP_060352.1:n.543-104_543-103del