Canonical Allele Identifier: CA2595319284

Gene: CLN6

Linked Data

• gnomAD v3: 15-68208756-C-A
• gnomAD v4: 15-68208756-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208756C>A , CM000677.2:g.68208756C>A	GRCh38
NC_000015.9:g.68501094C>A , CM000677.1:g.68501094C>A	GRCh37
NC_000015.8:g.66288148C>A	NCBI36
NG_008764.2:g.53456G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-346G>T MANE Select	ENSP00000249806.5:n.666-346G>T
ENST00000562767.2:c.84-11128G>T	ENSP00000456336.1:n.84-11128G>T
ENST00000563917.2:n.508-346G>T
ENST00000565471.6:c.207-346G>T	ENSP00000457384.1:n.207-346G>T
ENST00000635747.1:c.*569-346G>T	ENSP00000490627.1:n.*569-346G>T
ENST00000636212.1:c.*336-346G>T	ENSP00000489851.1:n.*336-346G>T
ENST00000636674.1:n.1768-346G>T
ENST00000636964.1:n.2194-346G>T
ENST00000637054.1:c.198+9780G>T	ENSP00000490807.1:n.198+9780G>T
ENST00000637329.1:c.635-346G>T
ENST00000637450.1:c.*320-346G>T	ENSP00000490204.1:n.*320-346G>T
ENST00000637494.1:c.378-346G>T	ENSP00000490057.1:n.378-346G>T
ENST00000637667.1:c.567-346G>T	ENSP00000489843.1:n.567-346G>T
ENST00000637823.1:c.491-346G>T
ENST00000637888.1:c.198+9780G>T	ENSP00000490546.1:n.198+9780G>T
ENST00000638076.1:c.*269-346G>T	ENSP00000490373.1:n.*269-346G>T
ENST00000638144.1:n.309-346G>T
ENST00000646164.1:c.39-9075G>T
ENST00000249806.9:c.666-346G>T	ENSP00000249806.5:n.666-346G>T
ENST00000538696.5:c.762-346G>T	ENSP00000445770.1:n.762-346G>T
ENST00000562767.1:c.84-11128G>T	ENSP00000456336.1:n.84-11128G>T
ENST00000564752.1:c.*50-346G>T	ENSP00000457822.1:n.*50-346G>T
ENST00000565471.5:c.207-346G>T	ENSP00000457384.1:n.207-346G>T
ENST00000566347.5:c.477-346G>T	ENSP00000457783.1:n.477-346G>T
ENST00000567060.5:c.*64-346G>T	ENSP00000454818.1:n.*64-346G>T
NM_017882.2:c.666-346G>T	NP_060352.1:n.666-346G>T
XR_931861.1:n.888-346G>T
NM_017882.3:c.666-346G>T MANE Select	NP_060352.1:n.666-346G>T