Canonical Allele Identifier: CA2804592534

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209845_68209846insA , CM000677.2:g.68209845_68209846insA	GRCh38
NC_000015.9:g.68502183_68502184insA , CM000677.1:g.68502183_68502184insA	GRCh37
NC_000015.8:g.66289237_66289238insA	NCBI36
NG_008764.2:g.52366_52367insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-87_543-86insT MANE Select	ENSP00000249806.5:n.543-87_543-86insT
ENST00000562767.2:c.84-12218_84-12217insT	ENSP00000456336.1:n.84-12218_84-12217insT
ENST00000563917.2:n.385-87_385-86insT
ENST00000565471.6:c.84-87_84-86insT	ENSP00000457384.1:n.84-87_84-86insT
ENST00000635747.1:c.*446-87_*446-86insT	ENSP00000490627.1:n.*446-87_*446-86insT
ENST00000636212.1:c.*213-87_*213-86insT	ENSP00000489851.1:n.*213-87_*213-86insT
ENST00000636314.1:c.239-87_239-86insT	ENSP00000490295.1:n.239-87_239-86insT
ENST00000636674.1:n.1645-87_1645-86insT
ENST00000636964.1:n.2071-87_2071-86insT
ENST00000637054.1:c.198+8690_198+8691insT	ENSP00000490807.1:n.198+8690_198+8691insT
ENST00000637223.1:c.*257-87_*257-86insT	ENSP00000490010.1:n.*257-87_*257-86insT
ENST00000637329.1:c.512-87_512-86insT
ENST00000637450.1:c.*197-87_*197-86insT	ENSP00000490204.1:n.*197-87_*197-86insT
ENST00000637494.1:c.255-87_255-86insT	ENSP00000490057.1:n.255-87_255-86insT
ENST00000637667.1:c.444-87_444-86insT	ENSP00000489843.1:n.444-87_444-86insT
ENST00000637823.1:c.368-87_368-86insT
ENST00000637888.1:c.198+8690_198+8691insT	ENSP00000490546.1:n.198+8690_198+8691insT
ENST00000638076.1:c.*146-87_*146-86insT	ENSP00000490373.1:n.*146-87_*146-86insT
ENST00000638144.1:n.186-87_186-86insT
ENST00000646164.1:c.38+8690_38+8691insT
ENST00000249806.9:c.543-87_543-86insT	ENSP00000249806.5:n.543-87_543-86insT
ENST00000538696.5:c.639-87_639-86insT	ENSP00000445770.1:n.639-87_639-86insT
ENST00000562767.1:c.84-12218_84-12217insT	ENSP00000456336.1:n.84-12218_84-12217insT
ENST00000563917.1:n.443-87_443-86insT
ENST00000564752.1:c.569-87_569-86insT	ENSP00000457822.1:n.569-87_569-86insT
ENST00000565471.5:c.84-87_84-86insT	ENSP00000457384.1:n.84-87_84-86insT
ENST00000566347.5:c.354-87_354-86insT	ENSP00000457783.1:n.354-87_354-86insT
ENST00000567060.5:c.298-126_298-125insT	ENSP00000454818.1:n.298-126_298-125insT
NM_017882.2:c.543-87_543-86insT	NP_060352.1:n.543-87_543-86insT
XR_931861.1:n.765-87_765-86insT
NM_017882.3:c.543-87_543-86insT MANE Select	NP_060352.1:n.543-87_543-86insT