Canonical Allele Identifier: CA2629164352

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209692-TCTCAGCTTTAGAGGCAGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209693_68209711del , CM000677.2:g.68209693_68209711del	GRCh38
NC_000015.9:g.68502031_68502049del , CM000677.1:g.68502031_68502049del	GRCh37
NC_000015.8:g.66289085_66289103del	NCBI36
NG_008764.2:g.52501_52519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.591_609del MANE Select	ENSP00000249806.5:p.Phe197LeufsTer3
ENST00000562767.2:c.84-12083_84-12065del	ENSP00000456336.1:n.84-12083_84-12065del
ENST00000563917.2:n.433_451del
ENST00000565471.6:c.132_150del	ENSP00000457384.1:p.Phe44LeufsTer3
ENST00000635747.1:c.*494_*512del	ENSP00000490627.1:n.*494_*512del
ENST00000636212.1:c.*261_*279del	ENSP00000489851.1:n.*261_*279del
ENST00000636314.1:c.287_305del	ENSP00000490295.1:p.Leu96Ter
ENST00000636674.1:n.1693_1711del
ENST00000636964.1:n.2119_2137del
ENST00000637054.1:c.198+8825_198+8843del	ENSP00000490807.1:n.198+8825_198+8843del
ENST00000637329.1:c.560_578del
ENST00000637450.1:c.*245_*263del	ENSP00000490204.1:n.*245_*263del
ENST00000637494.1:c.303_321del	ENSP00000490057.1:p.Phe101LeufsTer3
ENST00000637667.1:c.492_510del	ENSP00000489843.1:p.Phe164LeufsTer3
ENST00000637823.1:c.416_434del
ENST00000637888.1:c.198+8825_198+8843del	ENSP00000490546.1:n.198+8825_198+8843del
ENST00000638076.1:c.*194_*212del	ENSP00000490373.1:n.*194_*212del
ENST00000638144.1:n.234_252del
ENST00000646164.1:c.38+8825_38+8843del
ENST00000249806.9:c.591_609del	ENSP00000249806.5:p.Phe197LeufsTer3
ENST00000538696.5:c.687_705del	ENSP00000445770.1:p.Phe229LeufsTer3
ENST00000562767.1:c.84-12083_84-12065del	ENSP00000456336.1:n.84-12083_84-12065del
ENST00000563917.1:n.491_509del
ENST00000564752.1:c.617_635del	ENSP00000457822.1:p.Leu206Ter
ENST00000565471.5:c.132_150del	ENSP00000457384.1:p.Phe44LeufsTer3
ENST00000566347.5:c.402_420del	ENSP00000457783.1:p.Phe134LeufsTer3
ENST00000567060.5:c.307_*7del	ENSP00000454818.1:n.[c.307_*7del;Tyr103SerfsTer?]
NM_017882.2:c.591_609del	NP_060352.1:p.Phe197LeufsTer3
XR_931861.1:n.813_831del
NM_017882.3:c.591_609del MANE Select	NP_060352.1:p.Phe197LeufsTer3