Canonical Allele Identifier: CA715169243

Gene: CLN6

Linked Data

• dbSNP Id: rs1446941314
• MyVariant Identifiers: chr15:g.68502129_68502130insGGTCAGCGGCCC (hg19) ; chr15:g.68209791_68209792insGGTCAGCGGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209792_68209793insGTCAGCGGCCCG , CM000677.2:g.68209792_68209793insGTCAGCGGCCCG	GRCh38
NC_000015.9:g.68502130_68502131insGTCAGCGGCCCG , CM000677.1:g.68502130_68502131insGTCAGCGGCCCG	GRCh37
NC_000015.8:g.66289184_66289185insGTCAGCGGCCCG	NCBI36
NG_008764.2:g.52420_52421insGGGCCGCTGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-33_543-32insGGGCCGCTGACC MANE Select	ENSP00000249806.5:n.543-33_543-32insGGGCCGCTGACC
ENST00000562767.2:c.84-12164_84-12163insGGGCCGCTGACC	ENSP00000456336.1:n.84-12164_84-12163insGGGCCGCTGACC
ENST00000563917.2:n.385-33_385-32insGGGCCGCTGACC
ENST00000565471.6:c.84-33_84-32insGGGCCGCTGACC	ENSP00000457384.1:n.84-33_84-32insGGGCCGCTGACC
ENST00000635747.1:c.*446-33_*446-32insGGGCCGCTGACC	ENSP00000490627.1:n.*446-33_*446-32insGGGCCGCTGACC
ENST00000636212.1:c.*213-33_*213-32insGGGCCGCTGACC	ENSP00000489851.1:n.*213-33_*213-32insGGGCCGCTGACC
ENST00000636314.1:c.239-33_239-32insGGGCCGCTGACC	ENSP00000490295.1:n.239-33_239-32insGGGCCGCTGACC
ENST00000636674.1:n.1645-33_1645-32insGGGCCGCTGACC
ENST00000636964.1:n.2071-33_2071-32insGGGCCGCTGACC
ENST00000637054.1:c.198+8744_198+8745insGGGCCGCTGACC	ENSP00000490807.1:n.198+8744_198+8745insGGGCCGCTGACC
ENST00000637223.1:c.*257-33_*257-32insGGGCCGCTGACC	ENSP00000490010.1:n.*257-33_*257-32insGGGCCGCTGACC
ENST00000637329.1:c.512-33_512-32insGGGCCGCTGACC
ENST00000637450.1:c.*197-33_*197-32insGGGCCGCTGACC	ENSP00000490204.1:n.*197-33_*197-32insGGGCCGCTGACC
ENST00000637494.1:c.255-33_255-32insGGGCCGCTGACC	ENSP00000490057.1:n.255-33_255-32insGGGCCGCTGACC
ENST00000637667.1:c.444-33_444-32insGGGCCGCTGACC	ENSP00000489843.1:n.444-33_444-32insGGGCCGCTGACC
ENST00000637823.1:c.368-33_368-32insGGGCCGCTGACC
ENST00000637888.1:c.198+8744_198+8745insGGGCCGCTGACC	ENSP00000490546.1:n.198+8744_198+8745insGGGCCGCTGACC
ENST00000638076.1:c.*146-33_*146-32insGGGCCGCTGACC	ENSP00000490373.1:n.*146-33_*146-32insGGGCCGCTGACC
ENST00000638144.1:n.186-33_186-32insGGGCCGCTGACC
ENST00000646164.1:c.38+8744_38+8745insGGGCCGCTGACC
ENST00000249806.9:c.543-33_543-32insGGGCCGCTGACC	ENSP00000249806.5:n.543-33_543-32insGGGCCGCTGACC
ENST00000538696.5:c.639-33_639-32insGGGCCGCTGACC	ENSP00000445770.1:n.639-33_639-32insGGGCCGCTGACC
ENST00000562767.1:c.84-12164_84-12163insGGGCCGCTGACC	ENSP00000456336.1:n.84-12164_84-12163insGGGCCGCTGACC
ENST00000563917.1:n.443-33_443-32insGGGCCGCTGACC
ENST00000564752.1:c.569-33_569-32insGGGCCGCTGACC	ENSP00000457822.1:n.569-33_569-32insGGGCCGCTGACC
ENST00000565471.5:c.84-33_84-32insGGGCCGCTGACC	ENSP00000457384.1:n.84-33_84-32insGGGCCGCTGACC
ENST00000566347.5:c.354-33_354-32insGGGCCGCTGACC	ENSP00000457783.1:n.354-33_354-32insGGGCCGCTGACC
ENST00000567060.5:c.298-72_298-71insGGGCCGCTGACC	ENSP00000454818.1:n.298-72_298-71insGGGCCGCTGACC
NM_017882.2:c.543-33_543-32insGGGCCGCTGACC	NP_060352.1:n.543-33_543-32insGGGCCGCTGACC
XR_931861.1:n.765-33_765-32insGGGCCGCTGACC
NM_017882.3:c.543-33_543-32insGGGCCGCTGACC MANE Select	NP_060352.1:n.543-33_543-32insGGGCCGCTGACC