Canonical Allele Identifier: CA272389908

Gene: CLN6

Linked Data

• dbSNP Id: rs1043854438
• gnomAD v3: 15-68218125-AAAT-A
• gnomAD v4: 15-68218125-AAAT-A
• MyVariant Identifiers: chr15:g.68510464_68510466del (hg19) ; chr15:g.68218126_68218128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218130_68218132del , CM000677.2:g.68218130_68218132del	GRCh38
NC_000015.9:g.68510468_68510470del , CM000677.1:g.68510468_68510470del	GRCh37
NC_000015.8:g.66297522_66297524del	NCBI36
NG_008764.2:g.44084_44086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.198+408_198+410del MANE Select	ENSP00000249806.5:n.198+408_198+410del
ENST00000562767.2:c.83+11374_83+11376del	ENSP00000456336.1:n.83+11374_83+11376del
ENST00000563917.2:n.41-3740_41-3738del
ENST00000565471.6:c.84-8369_84-8367del	ENSP00000457384.1:n.84-8369_84-8367del
ENST00000569336.2:n.515_517del
ENST00000635747.1:c.*101+408_*101+410del	ENSP00000490627.1:n.*101+408_*101+410del
ENST00000636020.1:n.330+408_330+410del
ENST00000636212.1:c.198+408_198+410del	ENSP00000489851.1:n.198+408_198+410del
ENST00000636314.1:c.84-3740_84-3738del	ENSP00000490295.1:n.84-3740_84-3738del
ENST00000637054.1:c.198+408_198+410del	ENSP00000490807.1:n.198+408_198+410del
ENST00000637223.1:c.*101+408_*101+410del	ENSP00000490010.1:n.*101+408_*101+410del
ENST00000637329.1:c.109+408_109+410del
ENST00000637450.1:c.84-3740_84-3738del	ENSP00000490204.1:n.84-3740_84-3738del
ENST00000637494.1:c.198+408_198+410del	ENSP00000490057.1:n.198+408_198+410del
ENST00000637667.1:c.198+408_198+410del	ENSP00000489843.1:n.198+408_198+410del
ENST00000637823.1:c.124+408_124+410del
ENST00000637888.1:c.198+408_198+410del	ENSP00000490546.1:n.198+408_198+410del
ENST00000638076.1:c.198+408_198+410del	ENSP00000490373.1:n.198+408_198+410del
ENST00000638144.1:n.31-3740_31-3738del
ENST00000646164.1:c.38+408_38+410del
ENST00000249806.9:c.198+408_198+410del	ENSP00000249806.5:n.198+408_198+410del
ENST00000538696.5:c.294+408_294+410del	ENSP00000445770.1:n.294+408_294+410del
ENST00000562767.1:c.83+11374_83+11376del	ENSP00000456336.1:n.83+11374_83+11376del
ENST00000564752.1:c.198+408_198+410del	ENSP00000457822.1:n.198+408_198+410del
ENST00000564846.1:n.630+408_630+410del
ENST00000565471.5:c.84-8369_84-8367del	ENSP00000457384.1:n.84-8369_84-8367del
ENST00000566347.5:c.198+408_198+410del	ENSP00000457783.1:n.198+408_198+410del
ENST00000567060.5:c.198+408_198+410del	ENSP00000454818.1:n.198+408_198+410del
ENST00000569336.1:n.353+339_353+341del
NM_017882.2:c.198+408_198+410del	NP_060352.1:n.198+408_198+410del
XR_931861.1:n.301+408_301+410del
NM_017882.3:c.198+408_198+410del MANE Select	NP_060352.1:n.198+408_198+410del