Canonical Allele Identifier: CA971078810

Gene: CLN6

Linked Data

• dbSNP Id: rs2093195501
• gnomAD v3: 15-68208740-CCATTA-C
• gnomAD v4: 15-68208740-CCATTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208742_68208746del , CM000677.2:g.68208742_68208746del	GRCh38
NC_000015.9:g.68501080_68501084del , CM000677.1:g.68501080_68501084del	GRCh37
NC_000015.8:g.66288134_66288138del	NCBI36
NG_008764.2:g.53467_53471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-335_666-331del MANE Select	ENSP00000249806.5:n.666-335_666-331del
ENST00000562767.2:c.84-11117_84-11113del	ENSP00000456336.1:n.84-11117_84-11113del
ENST00000563917.2:n.508-335_508-331del
ENST00000565471.6:c.207-335_207-331del	ENSP00000457384.1:n.207-335_207-331del
ENST00000635747.1:c.*569-335_*569-331del	ENSP00000490627.1:n.*569-335_*569-331del
ENST00000636212.1:c.*336-335_*336-331del	ENSP00000489851.1:n.*336-335_*336-331del
ENST00000636674.1:n.1768-335_1768-331del
ENST00000636964.1:n.2194-335_2194-331del
ENST00000637054.1:c.198+9791_198+9795del	ENSP00000490807.1:n.198+9791_198+9795del
ENST00000637329.1:c.635-335_635-331del
ENST00000637450.1:c.*320-335_*320-331del	ENSP00000490204.1:n.*320-335_*320-331del
ENST00000637494.1:c.378-335_378-331del	ENSP00000490057.1:n.378-335_378-331del
ENST00000637667.1:c.567-335_567-331del	ENSP00000489843.1:n.567-335_567-331del
ENST00000637823.1:c.491-335_491-331del
ENST00000637888.1:c.198+9791_198+9795del	ENSP00000490546.1:n.198+9791_198+9795del
ENST00000638076.1:c.*269-335_*269-331del	ENSP00000490373.1:n.*269-335_*269-331del
ENST00000638144.1:n.309-335_309-331del
ENST00000646164.1:c.39-9064_39-9060del
ENST00000249806.9:c.666-335_666-331del	ENSP00000249806.5:n.666-335_666-331del
ENST00000538696.5:c.762-335_762-331del	ENSP00000445770.1:n.762-335_762-331del
ENST00000562767.1:c.84-11117_84-11113del	ENSP00000456336.1:n.84-11117_84-11113del
ENST00000564752.1:c.*50-335_*50-331del	ENSP00000457822.1:n.*50-335_*50-331del
ENST00000565471.5:c.207-335_207-331del	ENSP00000457384.1:n.207-335_207-331del
ENST00000566347.5:c.477-335_477-331del	ENSP00000457783.1:n.477-335_477-331del
ENST00000567060.5:c.*64-335_*64-331del	ENSP00000454818.1:n.*64-335_*64-331del
NM_017882.2:c.666-335_666-331del	NP_060352.1:n.666-335_666-331del
XR_931861.1:n.888-335_888-331del
NM_017882.3:c.666-335_666-331del MANE Select	NP_060352.1:n.666-335_666-331del