Canonical Allele Identifier: CA618697630

Gene: CLN6

Linked Data

• dbSNP Id: rs1256499246
• gnomAD v2: 15-68510828-GTGTCC-G
• gnomAD v3: 15-68218490-GTGTCC-G
• gnomAD v4: 15-68218490-GTGTCC-G
• MyVariant Identifiers: chr15:g.68510829_68510833del (hg19) ; chr15:g.68218491_68218495del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218492_68218496del , CM000677.2:g.68218492_68218496del	GRCh38
NC_000015.9:g.68510830_68510834del , CM000677.1:g.68510830_68510834del	GRCh37
NC_000015.8:g.66297884_66297888del	NCBI36
NG_008764.2:g.43717_43721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.198+41_198+45del MANE Select	ENSP00000249806.5:n.198+41_198+45del
ENST00000562767.2:c.83+11007_83+11011del	ENSP00000456336.1:n.83+11007_83+11011del
ENST00000563917.2:n.41-4107_41-4103del
ENST00000565471.6:c.84-8736_84-8732del	ENSP00000457384.1:n.84-8736_84-8732del
ENST00000569336.2:n.148_152del
ENST00000635747.1:c.*101+41_*101+45del	ENSP00000490627.1:n.*101+41_*101+45del
ENST00000636020.1:n.330+41_330+45del
ENST00000636212.1:c.198+41_198+45del	ENSP00000489851.1:n.198+41_198+45del
ENST00000636314.1:c.84-4107_84-4103del	ENSP00000490295.1:n.84-4107_84-4103del
ENST00000637054.1:c.198+41_198+45del	ENSP00000490807.1:n.198+41_198+45del
ENST00000637223.1:c.*101+41_*101+45del	ENSP00000490010.1:n.*101+41_*101+45del
ENST00000637329.1:c.109+41_109+45del
ENST00000637450.1:c.84-4107_84-4103del	ENSP00000490204.1:n.84-4107_84-4103del
ENST00000637494.1:c.198+41_198+45del	ENSP00000490057.1:n.198+41_198+45del
ENST00000637667.1:c.198+41_198+45del	ENSP00000489843.1:n.198+41_198+45del
ENST00000637823.1:c.124+41_124+45del
ENST00000637888.1:c.198+41_198+45del	ENSP00000490546.1:n.198+41_198+45del
ENST00000638076.1:c.198+41_198+45del	ENSP00000490373.1:n.198+41_198+45del
ENST00000638144.1:n.31-4107_31-4103del
ENST00000646164.1:c.38+41_38+45del
ENST00000249806.9:c.198+41_198+45del	ENSP00000249806.5:n.198+41_198+45del
ENST00000538696.5:c.294+41_294+45del	ENSP00000445770.1:n.294+41_294+45del
ENST00000562767.1:c.83+11007_83+11011del	ENSP00000456336.1:n.83+11007_83+11011del
ENST00000564752.1:c.198+41_198+45del	ENSP00000457822.1:n.198+41_198+45del
ENST00000564846.1:n.630+41_630+45del
ENST00000565471.5:c.84-8736_84-8732del	ENSP00000457384.1:n.84-8736_84-8732del
ENST00000566347.5:c.198+41_198+45del	ENSP00000457783.1:n.198+41_198+45del
ENST00000567060.5:c.198+41_198+45del	ENSP00000454818.1:n.198+41_198+45del
ENST00000569336.1:n.325_329del
NM_017882.2:c.198+41_198+45del	NP_060352.1:n.198+41_198+45del
XR_931861.1:n.301+41_301+45del
NM_017882.3:c.198+41_198+45del MANE Select	NP_060352.1:n.198+41_198+45del