Canonical Allele Identifier: CA715168076

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2746073
• ClinVar RCV Id: RCV003531705
• dbSNP Id: rs1235296145
• gnomAD v4: 15-68208425-GGTGA-G
• MyVariant Identifiers: chr15:g.68500764_68500767del (hg19) ; chr15:g.68208426_68208429del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208431_68208434del , CM000677.2:g.68208431_68208434del	GRCh38
NC_000015.9:g.68500769_68500772del , CM000677.1:g.68500769_68500772del	GRCh37
NC_000015.8:g.66287823_66287826del	NCBI36
NG_008764.2:g.53783_53786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-19_666-16del MANE Select	ENSP00000249806.5:n.666-19_666-16del
ENST00000562767.2:c.84-10801_84-10798del	ENSP00000456336.1:n.84-10801_84-10798del
ENST00000563917.2:n.508-19_508-16del
ENST00000565471.6:c.207-19_207-16del	ENSP00000457384.1:n.207-19_207-16del
ENST00000635747.1:c.*569-19_*569-16del	ENSP00000490627.1:n.*569-19_*569-16del
ENST00000636212.1:c.*336-19_*336-16del	ENSP00000489851.1:n.*336-19_*336-16del
ENST00000636674.1:n.1768-19_1768-16del
ENST00000636964.1:n.2194-19_2194-16del
ENST00000637054.1:c.198+10107_198+10110del	ENSP00000490807.1:n.198+10107_198+10110del
ENST00000637329.1:c.635-19_635-16del
ENST00000637450.1:c.*320-19_*320-16del	ENSP00000490204.1:n.*320-19_*320-16del
ENST00000637494.1:c.378-19_378-16del	ENSP00000490057.1:n.378-19_378-16del
ENST00000637667.1:c.567-19_567-16del	ENSP00000489843.1:n.567-19_567-16del
ENST00000637823.1:c.491-19_491-16del
ENST00000637888.1:c.198+10107_198+10110del	ENSP00000490546.1:n.198+10107_198+10110del
ENST00000638076.1:c.*269-19_*269-16del	ENSP00000490373.1:n.*269-19_*269-16del
ENST00000638144.1:n.309-19_309-16del
ENST00000646164.1:c.39-8748_39-8745del
ENST00000249806.9:c.666-19_666-16del	ENSP00000249806.5:n.666-19_666-16del
ENST00000538696.5:c.762-19_762-16del	ENSP00000445770.1:n.762-19_762-16del
ENST00000562767.1:c.84-10801_84-10798del	ENSP00000456336.1:n.84-10801_84-10798del
ENST00000564752.1:c.*50-19_*50-16del	ENSP00000457822.1:n.*50-19_*50-16del
ENST00000565471.5:c.207-19_207-16del	ENSP00000457384.1:n.207-19_207-16del
ENST00000566347.5:c.477-19_477-16del	ENSP00000457783.1:n.477-19_477-16del
ENST00000567060.5:c.*64-19_*64-16del	ENSP00000454818.1:n.*64-19_*64-16del
NM_017882.2:c.666-19_666-16del	NP_060352.1:n.666-19_666-16del
XR_931861.1:n.888-19_888-16del
NM_017882.3:c.666-19_666-16del MANE Select	NP_060352.1:n.666-19_666-16del