Canonical Allele Identifier: CA2629165049

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211754-CGGTGGTTGACAGAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211755_68211769del , CM000677.2:g.68211755_68211769del	GRCh38
NC_000015.9:g.68504093_68504107del , CM000677.1:g.68504093_68504107del	GRCh37
NC_000015.8:g.66291147_66291161del	NCBI36
NG_008764.2:g.50443_50457del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.392_406del MANE Select	ENSP00000249806.5:p.Asp131_Arg136delinsGl...
ENST00000562767.2:c.84-14141_84-14127del	ENSP00000456336.1:n.84-14141_84-14127del
ENST00000563917.2:n.234_248del
ENST00000565471.6:c.84-2010_84-1996del	ENSP00000457384.1:n.84-2010_84-1996del
ENST00000635747.1:c.*295_*309del	ENSP00000490627.1:n.*295_*309del
ENST00000636212.1:c.298-28_298-14del	ENSP00000489851.1:n.298-28_298-14del
ENST00000636314.1:c.183-451_183-437del	ENSP00000490295.1:n.183-451_183-437del
ENST00000636674.1:n.1375_1389del
ENST00000636964.1:n.1564_1578del
ENST00000637054.1:c.198+6767_198+6781del	ENSP00000490807.1:n.198+6767_198+6781del
ENST00000637223.1:c.*201-451_*201-437del	ENSP00000490010.1:n.*201-451_*201-437del
ENST00000637329.1:c.361_375del
ENST00000637450.1:c.*46_*60del	ENSP00000490204.1:n.*46_*60del
ENST00000637494.1:c.199-451_199-437del	ENSP00000490057.1:n.199-451_199-437del
ENST00000637667.1:c.293_307del	ENSP00000489843.1:p.Asp98_Arg103delinsGly...
ENST00000637823.1:c.224-126_224-112del
ENST00000637888.1:c.198+6767_198+6781del	ENSP00000490546.1:n.198+6767_198+6781del
ENST00000638076.1:c.392_406del	ENSP00000490373.1:p.Asp131_Arg136delinsGl...
ENST00000638144.1:n.130-451_130-437del
ENST00000646164.1:c.38+6767_38+6781del
ENST00000249806.9:c.392_406del	ENSP00000249806.5:p.Asp131_Arg136delinsGl...
ENST00000538696.5:c.488_502del	ENSP00000445770.1:p.Asp163_Arg168delinsGl...
ENST00000562767.1:c.84-14141_84-14127del	ENSP00000456336.1:n.84-14141_84-14127del
ENST00000563917.1:n.173_187del
ENST00000564752.1:c.392_406del	ENSP00000457822.1:p.Asp131_Arg136delinsGl...
ENST00000565471.5:c.84-2010_84-1996del	ENSP00000457384.1:n.84-2010_84-1996del
ENST00000566347.5:c.298-451_298-437del	ENSP00000457783.1:n.298-451_298-437del
ENST00000567060.5:c.298-2049_298-2035del	ENSP00000454818.1:n.298-2049_298-2035del
NM_017882.2:c.392_406del	NP_060352.1:p.Asp131_Arg136delinsGly
XR_931861.1:n.495_509del
NM_017882.3:c.392_406del MANE Select	NP_060352.1:p.Asp131_Arg136delinsGly