Canonical Allele Identifier: CA971083582

Gene: CLN6

Linked Data

• dbSNP Id: rs2093227467
• gnomAD v3: 15-68218721-CCA-C
• gnomAD v4: 15-68218721-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218724_68218725del , CM000677.2:g.68218724_68218725del	GRCh38
NC_000015.9:g.68511062_68511063del , CM000677.1:g.68511062_68511063del	GRCh37
NC_000015.8:g.66298116_66298117del	NCBI36
NG_008764.2:g.43489_43490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.84-73_84-72del MANE Select	ENSP00000249806.5:n.84-73_84-72del
ENST00000562767.2:c.83+10779_83+10780del	ENSP00000456336.1:n.83+10779_83+10780del
ENST00000563917.2:n.41-4335_41-4334del
ENST00000565471.6:c.84-8964_84-8963del	ENSP00000457384.1:n.84-8964_84-8963del
ENST00000635747.1:c.173-73_173-72del	ENSP00000490627.1:n.173-73_173-72del
ENST00000636020.1:n.216-73_216-72del
ENST00000636212.1:c.84-73_84-72del	ENSP00000489851.1:n.84-73_84-72del
ENST00000636314.1:c.84-4335_84-4334del	ENSP00000490295.1:n.84-4335_84-4334del
ENST00000636876.1:c.*104-73_*104-72del	ENSP00000489950.1:n.*104-73_*104-72del
ENST00000637054.1:c.84-73_84-72del	ENSP00000490807.1:n.84-73_84-72del
ENST00000637223.1:c.173-73_173-72del	ENSP00000490010.1:n.173-73_173-72del
ENST00000637450.1:c.84-4335_84-4334del	ENSP00000490204.1:n.84-4335_84-4334del
ENST00000637494.1:c.84-73_84-72del	ENSP00000490057.1:n.84-73_84-72del
ENST00000637667.1:c.84-73_84-72del	ENSP00000489843.1:n.84-73_84-72del
ENST00000637823.1:c.10-73_10-72del
ENST00000637888.1:c.84-73_84-72del	ENSP00000490546.1:n.84-73_84-72del
ENST00000638076.1:c.84-73_84-72del	ENSP00000490373.1:n.84-73_84-72del
ENST00000638144.1:n.31-4335_31-4334del
ENST00000249806.9:c.84-73_84-72del	ENSP00000249806.5:n.84-73_84-72del
ENST00000538696.5:c.180-73_180-72del	ENSP00000445770.1:n.180-73_180-72del
ENST00000562767.1:c.83+10779_83+10780del	ENSP00000456336.1:n.83+10779_83+10780del
ENST00000564752.1:c.84-73_84-72del	ENSP00000457822.1:n.84-73_84-72del
ENST00000564846.1:n.516-73_516-72del
ENST00000565471.5:c.84-8964_84-8963del	ENSP00000457384.1:n.84-8964_84-8963del
ENST00000566347.5:c.84-73_84-72del	ENSP00000457783.1:n.84-73_84-72del
ENST00000567060.5:c.84-73_84-72del	ENSP00000454818.1:n.84-73_84-72del
ENST00000569336.1:n.170-73_170-72del
NM_017882.2:c.84-73_84-72del	NP_060352.1:n.84-73_84-72del
XR_931861.1:n.187-73_187-72del
NM_017882.3:c.84-73_84-72del MANE Select	NP_060352.1:n.84-73_84-72del