Canonical Allele Identifier: CA2184872562

Gene: CLN6

Linked Data

• dbSNP Id: rs2093206025

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211744_68211745dup , CM000677.2:g.68211744_68211745dup	GRCh38
NC_000015.9:g.68504082_68504083dup , CM000677.1:g.68504082_68504083dup	GRCh37
NC_000015.8:g.66291136_66291137dup	NCBI36
NG_008764.2:g.50467_50468dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.416_417dup MANE Select	ENSP00000249806.5:p.Gly141ValfsTer23
ENST00000562767.2:c.84-14117_84-14116dup	ENSP00000456336.1:n.84-14117_84-14116dup
ENST00000563917.2:n.258_259dup
ENST00000565471.6:c.84-1986_84-1985dup	ENSP00000457384.1:n.84-1986_84-1985dup
ENST00000635747.1:c.*319_*320dup	ENSP00000490627.1:n.*319_*320dup
ENST00000636212.1:c.298-4_298-3dup	ENSP00000489851.1:n.298-4_298-3dup
ENST00000636314.1:c.183-427_183-426dup	ENSP00000490295.1:n.183-427_183-426dup
ENST00000636674.1:n.1399_1400dup
ENST00000636964.1:n.1588_1589dup
ENST00000637054.1:c.198+6791_198+6792dup	ENSP00000490807.1:n.198+6791_198+6792dup
ENST00000637223.1:c.*201-427_*201-426dup	ENSP00000490010.1:n.*201-427_*201-426dup
ENST00000637329.1:c.385_386dup
ENST00000637450.1:c.*70_*71dup	ENSP00000490204.1:n.*70_*71dup
ENST00000637494.1:c.199-427_199-426dup	ENSP00000490057.1:n.199-427_199-426dup
ENST00000637667.1:c.317_318dup	ENSP00000489843.1:p.Gly108ValfsTer23
ENST00000637823.1:c.224-102_224-101dup
ENST00000637888.1:c.198+6791_198+6792dup	ENSP00000490546.1:n.198+6791_198+6792dup
ENST00000638076.1:c.416_417dup	ENSP00000490373.1:p.Gly141ValfsTer24
ENST00000638144.1:n.130-427_130-426dup
ENST00000646164.1:c.38+6791_38+6792dup
ENST00000249806.9:c.416_417dup	ENSP00000249806.5:p.Gly141ValfsTer23
ENST00000538696.5:c.512_513dup	ENSP00000445770.1:p.Gly173ValfsTer23
ENST00000562767.1:c.84-14117_84-14116dup	ENSP00000456336.1:n.84-14117_84-14116dup
ENST00000563917.1:n.197_198dup
ENST00000564752.1:c.416_417dup	ENSP00000457822.1:p.Gly141ValfsTer24
ENST00000565471.5:c.84-1986_84-1985dup	ENSP00000457384.1:n.84-1986_84-1985dup
ENST00000566347.5:c.298-427_298-426dup	ENSP00000457783.1:n.298-427_298-426dup
ENST00000567060.5:c.298-2025_298-2024dup	ENSP00000454818.1:n.298-2025_298-2024dup
NM_017882.2:c.416_417dup	NP_060352.1:p.Gly141ValfsTer23
XR_931861.1:n.519_520dup
NM_017882.3:c.416_417dup MANE Select	NP_060352.1:p.Gly141ValfsTer23