Canonical Allele Identifier: CA2804592563

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209873_68209874insAA , CM000677.2:g.68209873_68209874insAA	GRCh38
NC_000015.9:g.68502211_68502212insAA , CM000677.1:g.68502211_68502212insAA	GRCh37
NC_000015.8:g.66289265_66289266insAA	NCBI36
NG_008764.2:g.52338_52339insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-115_543-114insTT MANE Select	ENSP00000249806.5:n.543-115_543-114insTT
ENST00000562767.2:c.84-12246_84-12245insTT	ENSP00000456336.1:n.84-12246_84-12245insTT
ENST00000563917.2:n.385-115_385-114insTT
ENST00000565471.6:c.84-115_84-114insTT	ENSP00000457384.1:n.84-115_84-114insTT
ENST00000635747.1:c.*446-115_*446-114insTT	ENSP00000490627.1:n.*446-115_*446-114insTT
ENST00000636212.1:c.*213-115_*213-114insTT	ENSP00000489851.1:n.*213-115_*213-114insTT
ENST00000636314.1:c.239-115_239-114insTT	ENSP00000490295.1:n.239-115_239-114insTT
ENST00000636674.1:n.1645-115_1645-114insTT
ENST00000636964.1:n.2071-115_2071-114insTT
ENST00000637054.1:c.198+8662_198+8663insTT	ENSP00000490807.1:n.198+8662_198+8663insTT
ENST00000637223.1:c.*257-115_*257-114insTT	ENSP00000490010.1:n.*257-115_*257-114insTT
ENST00000637329.1:c.512-115_512-114insTT
ENST00000637450.1:c.*197-115_*197-114insTT	ENSP00000490204.1:n.*197-115_*197-114insTT
ENST00000637494.1:c.255-115_255-114insTT	ENSP00000490057.1:n.255-115_255-114insTT
ENST00000637667.1:c.444-115_444-114insTT	ENSP00000489843.1:n.444-115_444-114insTT
ENST00000637823.1:c.368-115_368-114insTT
ENST00000637888.1:c.198+8662_198+8663insTT	ENSP00000490546.1:n.198+8662_198+8663insTT
ENST00000638076.1:c.*146-115_*146-114insTT	ENSP00000490373.1:n.*146-115_*146-114insTT
ENST00000638144.1:n.186-115_186-114insTT
ENST00000646164.1:c.38+8662_38+8663insTT
ENST00000249806.9:c.543-115_543-114insTT	ENSP00000249806.5:n.543-115_543-114insTT
ENST00000538696.5:c.639-115_639-114insTT	ENSP00000445770.1:n.639-115_639-114insTT
ENST00000562767.1:c.84-12246_84-12245insTT	ENSP00000456336.1:n.84-12246_84-12245insTT
ENST00000563917.1:n.443-115_443-114insTT
ENST00000564752.1:c.569-115_569-114insTT	ENSP00000457822.1:n.569-115_569-114insTT
ENST00000565471.5:c.84-115_84-114insTT	ENSP00000457384.1:n.84-115_84-114insTT
ENST00000566347.5:c.354-115_354-114insTT	ENSP00000457783.1:n.354-115_354-114insTT
ENST00000567060.5:c.298-154_298-153insTT	ENSP00000454818.1:n.298-154_298-153insTT
NM_017882.2:c.543-115_543-114insTT	NP_060352.1:n.543-115_543-114insTT
XR_931861.1:n.765-115_765-114insTT
NM_017882.3:c.543-115_543-114insTT MANE Select	NP_060352.1:n.543-115_543-114insTT