Canonical Allele Identifier: CA2629165017

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211729-GTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211732_68211734del , CM000677.2:g.68211732_68211734del	GRCh38
NC_000015.9:g.68504070_68504072del , CM000677.1:g.68504070_68504072del	GRCh37
NC_000015.8:g.66291124_66291126del	NCBI36
NG_008764.2:g.50480_50482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.429_431del MANE Select	ENSP00000249806.5:p.Gln143del
ENST00000562767.2:c.84-14104_84-14102del	ENSP00000456336.1:n.84-14104_84-14102del
ENST00000563917.2:n.271_273del
ENST00000565471.6:c.84-1973_84-1971del	ENSP00000457384.1:n.84-1973_84-1971del
ENST00000635747.1:c.*332_*334del	ENSP00000490627.1:n.*332_*334del
ENST00000636212.1:c.307_309del	ENSP00000489851.1:p.Ala103del
ENST00000636314.1:c.183-414_183-412del	ENSP00000490295.1:n.183-414_183-412del
ENST00000636674.1:n.1412_1414del
ENST00000636964.1:n.1601_1603del
ENST00000637054.1:c.198+6804_198+6806del	ENSP00000490807.1:n.198+6804_198+6806del
ENST00000637223.1:c.*201-414_*201-412del	ENSP00000490010.1:n.*201-414_*201-412del
ENST00000637329.1:c.398_400del
ENST00000637450.1:c.*83_*85del	ENSP00000490204.1:n.*83_*85del
ENST00000637494.1:c.199-414_199-412del	ENSP00000490057.1:n.199-414_199-412del
ENST00000637667.1:c.330_332del	ENSP00000489843.1:p.Gln110del
ENST00000637823.1:c.224-89_224-87del
ENST00000637888.1:c.198+6804_198+6806del	ENSP00000490546.1:n.198+6804_198+6806del
ENST00000638076.1:c.429_431del	ENSP00000490373.1:p.Gln143del
ENST00000638144.1:n.130-414_130-412del
ENST00000646164.1:c.38+6804_38+6806del
ENST00000249806.9:c.429_431del	ENSP00000249806.5:p.Gln143del
ENST00000538696.5:c.525_527del	ENSP00000445770.1:p.Gln175del
ENST00000562767.1:c.84-14104_84-14102del	ENSP00000456336.1:n.84-14104_84-14102del
ENST00000563917.1:n.210_212del
ENST00000564752.1:c.429_431del	ENSP00000457822.1:p.Gln143del
ENST00000565471.5:c.84-1973_84-1971del	ENSP00000457384.1:n.84-1973_84-1971del
ENST00000566347.5:c.298-414_298-412del	ENSP00000457783.1:n.298-414_298-412del
ENST00000567060.5:c.298-2012_298-2010del	ENSP00000454818.1:n.298-2012_298-2010del
NM_017882.2:c.429_431del	NP_060352.1:p.Gln143del
XR_931861.1:n.532_534del
NM_017882.3:c.429_431del MANE Select	NP_060352.1:p.Gln143del