Canonical Allele Identifier: CA10642488

Gene: CLN6

Linked Data

• ClinVar Variation Id: 316994
• ClinVar RCV Id: RCV000361420 ; RCV000674466
• dbSNP Id: rs886051447
• gnomAD v4: 15-68211803-AGAT-A
• MyVariant Identifiers: chr15:g.68504142_68504144del (hg19) ; chr15:g.68211804_68211806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211811_68211813del , CM000677.2:g.68211811_68211813del	GRCh38
NC_000015.9:g.68504149_68504151del , CM000677.1:g.68504149_68504151del	GRCh37
NC_000015.8:g.66291203_66291205del	NCBI36
NG_008764.2:g.50406_50408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.355_357del MANE Select	ENSP00000249806.5:p.Ile119del
ENST00000562767.2:c.84-14178_84-14176del	ENSP00000456336.1:n.84-14178_84-14176del
ENST00000563917.2:n.197_199del
ENST00000565471.6:c.84-2047_84-2045del	ENSP00000457384.1:n.84-2047_84-2045del
ENST00000635747.1:c.*258_*260del	ENSP00000490627.1:n.*258_*260del
ENST00000636212.1:c.298-65_298-63del	ENSP00000489851.1:n.298-65_298-63del
ENST00000636314.1:c.183-488_183-486del	ENSP00000490295.1:n.183-488_183-486del
ENST00000636674.1:n.1338_1340del
ENST00000636964.1:n.1527_1529del
ENST00000637054.1:c.198+6730_198+6732del	ENSP00000490807.1:n.198+6730_198+6732del
ENST00000637223.1:c.*201-488_*201-486del	ENSP00000490010.1:n.*201-488_*201-486del
ENST00000637329.1:c.324_326del
ENST00000637450.1:c.*9_*11del	ENSP00000490204.1:n.*9_*11del
ENST00000637494.1:c.199-488_199-486del	ENSP00000490057.1:n.199-488_199-486del
ENST00000637667.1:c.256_258del	ENSP00000489843.1:p.Ile86del
ENST00000637823.1:c.224-163_224-161del
ENST00000637888.1:c.198+6730_198+6732del	ENSP00000490546.1:n.198+6730_198+6732del
ENST00000638076.1:c.355_357del	ENSP00000490373.1:p.Ile119del
ENST00000638144.1:n.130-488_130-486del
ENST00000646164.1:c.38+6730_38+6732del
ENST00000249806.9:c.355_357del	ENSP00000249806.5:p.Ile119del
ENST00000538696.5:c.451_453del	ENSP00000445770.1:p.Ile151del
ENST00000562767.1:c.84-14178_84-14176del	ENSP00000456336.1:n.84-14178_84-14176del
ENST00000563917.1:n.136_138del
ENST00000564752.1:c.355_357del	ENSP00000457822.1:p.Ile119del
ENST00000565471.5:c.84-2047_84-2045del	ENSP00000457384.1:n.84-2047_84-2045del
ENST00000566347.5:c.298-488_298-486del	ENSP00000457783.1:n.298-488_298-486del
ENST00000567060.5:c.298-2086_298-2084del	ENSP00000454818.1:n.298-2086_298-2084del
NM_017882.2:c.355_357del	NP_060352.1:p.Ile119del
XR_931861.1:n.458_460del
NM_017882.3:c.355_357del MANE Select	NP_060352.1:p.Ile119del