Canonical Allele Identifier: CA2580613867

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1367374
• ClinVar RCV Id: RCV001947267
• dbSNP Id: rs2141137304
• gnomAD v4: 15-68209743-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209748_68209750del , CM000677.2:g.68209748_68209750del	GRCh38
NC_000015.9:g.68502086_68502088del , CM000677.1:g.68502086_68502088del	GRCh37
NC_000015.8:g.66289140_66289142del	NCBI36
NG_008764.2:g.52466_52468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.556_558del MANE Select	ENSP00000249806.5:p.Phe186del
ENST00000562767.2:c.84-12118_84-12116del	ENSP00000456336.1:n.84-12118_84-12116del
ENST00000563917.2:n.398_400del
ENST00000565471.6:c.97_99del	ENSP00000457384.1:p.Phe33del
ENST00000635747.1:c.*459_*461del	ENSP00000490627.1:n.*459_*461del
ENST00000636212.1:c.*226_*228del	ENSP00000489851.1:n.*226_*228del
ENST00000636314.1:c.252_254del	ENSP00000490295.1:p.Ser85del
ENST00000636674.1:n.1658_1660del
ENST00000636964.1:n.2084_2086del
ENST00000637054.1:c.198+8790_198+8792del	ENSP00000490807.1:n.198+8790_198+8792del
ENST00000637223.1:c.*270_*272del	ENSP00000490010.1:n.*270_*272del
ENST00000637329.1:c.525_527del
ENST00000637450.1:c.*210_*212del	ENSP00000490204.1:n.*210_*212del
ENST00000637494.1:c.268_270del	ENSP00000490057.1:p.Phe90del
ENST00000637667.1:c.457_459del	ENSP00000489843.1:p.Phe153del
ENST00000637823.1:c.381_383del
ENST00000637888.1:c.198+8790_198+8792del	ENSP00000490546.1:n.198+8790_198+8792del
ENST00000638076.1:c.*159_*161del	ENSP00000490373.1:n.*159_*161del
ENST00000638144.1:n.199_201del
ENST00000646164.1:c.38+8790_38+8792del
ENST00000249806.9:c.556_558del	ENSP00000249806.5:p.Phe186del
ENST00000538696.5:c.652_654del	ENSP00000445770.1:p.Phe218del
ENST00000562767.1:c.84-12118_84-12116del	ENSP00000456336.1:n.84-12118_84-12116del
ENST00000563917.1:n.456_458del
ENST00000564752.1:c.582_584del	ENSP00000457822.1:p.Ser195del
ENST00000565471.5:c.97_99del	ENSP00000457384.1:p.Phe33del
ENST00000566347.5:c.367_369del	ENSP00000457783.1:p.Phe123del
ENST00000567060.5:c.298-26_298-24del	ENSP00000454818.1:n.298-26_298-24del
NM_017882.2:c.556_558del	NP_060352.1:p.Phe186del
XR_931861.1:n.778_780del
NM_017882.3:c.556_558del MANE Select	NP_060352.1:p.Phe186del