Canonical Allele Identifier: CA2629165096

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211824-TGATGGAGCGTGGCAGGGTGCGGGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211827_68211851del , CM000677.2:g.68211827_68211851del	GRCh38
NC_000015.9:g.68504165_68504189del , CM000677.1:g.68504165_68504189del	GRCh37
NC_000015.8:g.66291219_66291243del	NCBI36
NG_008764.2:g.50363_50387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.312_336del MANE Select	ENSP00000249806.5:p.Pro105ArgfsTer3
ENST00000562767.2:c.84-14221_84-14197del	ENSP00000456336.1:n.84-14221_84-14197del
ENST00000563917.2:n.154_178del
ENST00000565471.6:c.84-2090_84-2066del	ENSP00000457384.1:n.84-2090_84-2066del
ENST00000635747.1:c.*215_*239del	ENSP00000490627.1:n.*215_*239del
ENST00000636212.1:c.298-108_298-84del	ENSP00000489851.1:n.298-108_298-84del
ENST00000636314.1:c.183-531_183-507del	ENSP00000490295.1:n.183-531_183-507del
ENST00000636674.1:n.1295_1319del
ENST00000636964.1:n.1484_1508del
ENST00000637054.1:c.198+6687_198+6711del	ENSP00000490807.1:n.198+6687_198+6711del
ENST00000637223.1:c.*201-531_*201-507del	ENSP00000490010.1:n.*201-531_*201-507del
ENST00000637329.1:c.281_305del
ENST00000637450.1:c.197_221del	ENSP00000490204.1:p.Pro66HisfsTer19
ENST00000637494.1:c.199-531_199-507del	ENSP00000490057.1:n.199-531_199-507del
ENST00000637667.1:c.213_237del	ENSP00000489843.1:p.Pro72ArgfsTer3
ENST00000637823.1:c.224-206_224-182del
ENST00000637888.1:c.198+6687_198+6711del	ENSP00000490546.1:n.198+6687_198+6711del
ENST00000638076.1:c.312_336del	ENSP00000490373.1:p.Pro105ArgfsTer3
ENST00000638144.1:n.130-531_130-507del
ENST00000646164.1:c.38+6687_38+6711del
ENST00000249806.9:c.312_336del	ENSP00000249806.5:p.Pro105ArgfsTer3
ENST00000538696.5:c.408_432del	ENSP00000445770.1:p.Pro137ArgfsTer3
ENST00000562767.1:c.84-14221_84-14197del	ENSP00000456336.1:n.84-14221_84-14197del
ENST00000563917.1:n.93_117del
ENST00000564752.1:c.312_336del	ENSP00000457822.1:p.Pro105ArgfsTer3
ENST00000565471.5:c.84-2090_84-2066del	ENSP00000457384.1:n.84-2090_84-2066del
ENST00000566347.5:c.298-531_298-507del	ENSP00000457783.1:n.298-531_298-507del
ENST00000567060.5:c.298-2129_298-2105del	ENSP00000454818.1:n.298-2129_298-2105del
NM_017882.2:c.312_336del	NP_060352.1:p.Pro105ArgfsTer3
XR_931861.1:n.415_439del
NM_017882.3:c.312_336del MANE Select	NP_060352.1:p.Pro105ArgfsTer3