Canonical Allele Identifier: CA2804592557

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209872_68209873insA , CM000677.2:g.68209872_68209873insA	GRCh38
NC_000015.9:g.68502210_68502211insA , CM000677.1:g.68502210_68502211insA	GRCh37
NC_000015.8:g.66289264_66289265insA	NCBI36
NG_008764.2:g.52339_52340insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-114_543-113insT MANE Select	ENSP00000249806.5:n.543-114_543-113insT
ENST00000562767.2:c.84-12245_84-12244insT	ENSP00000456336.1:n.84-12245_84-12244insT
ENST00000563917.2:n.385-114_385-113insT
ENST00000565471.6:c.84-114_84-113insT	ENSP00000457384.1:n.84-114_84-113insT
ENST00000635747.1:c.*446-114_*446-113insT	ENSP00000490627.1:n.*446-114_*446-113insT
ENST00000636212.1:c.*213-114_*213-113insT	ENSP00000489851.1:n.*213-114_*213-113insT
ENST00000636314.1:c.239-114_239-113insT	ENSP00000490295.1:n.239-114_239-113insT
ENST00000636674.1:n.1645-114_1645-113insT
ENST00000636964.1:n.2071-114_2071-113insT
ENST00000637054.1:c.198+8663_198+8664insT	ENSP00000490807.1:n.198+8663_198+8664insT
ENST00000637223.1:c.*257-114_*257-113insT	ENSP00000490010.1:n.*257-114_*257-113insT
ENST00000637329.1:c.512-114_512-113insT
ENST00000637450.1:c.*197-114_*197-113insT	ENSP00000490204.1:n.*197-114_*197-113insT
ENST00000637494.1:c.255-114_255-113insT	ENSP00000490057.1:n.255-114_255-113insT
ENST00000637667.1:c.444-114_444-113insT	ENSP00000489843.1:n.444-114_444-113insT
ENST00000637823.1:c.368-114_368-113insT
ENST00000637888.1:c.198+8663_198+8664insT	ENSP00000490546.1:n.198+8663_198+8664insT
ENST00000638076.1:c.*146-114_*146-113insT	ENSP00000490373.1:n.*146-114_*146-113insT
ENST00000638144.1:n.186-114_186-113insT
ENST00000646164.1:c.38+8663_38+8664insT
ENST00000249806.9:c.543-114_543-113insT	ENSP00000249806.5:n.543-114_543-113insT
ENST00000538696.5:c.639-114_639-113insT	ENSP00000445770.1:n.639-114_639-113insT
ENST00000562767.1:c.84-12245_84-12244insT	ENSP00000456336.1:n.84-12245_84-12244insT
ENST00000563917.1:n.443-114_443-113insT
ENST00000564752.1:c.569-114_569-113insT	ENSP00000457822.1:n.569-114_569-113insT
ENST00000565471.5:c.84-114_84-113insT	ENSP00000457384.1:n.84-114_84-113insT
ENST00000566347.5:c.354-114_354-113insT	ENSP00000457783.1:n.354-114_354-113insT
ENST00000567060.5:c.298-153_298-152insT	ENSP00000454818.1:n.298-153_298-152insT
NM_017882.2:c.543-114_543-113insT	NP_060352.1:n.543-114_543-113insT
XR_931861.1:n.765-114_765-113insT
NM_017882.3:c.543-114_543-113insT MANE Select	NP_060352.1:n.543-114_543-113insT