Canonical Allele Identifier: CA2184872600

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211762_68211764delinsGAC , CM000677.2:g.68211762_68211764delinsGAC	GRCh38
NC_000015.9:g.68504100_68504102delinsGAC , CM000677.1:g.68504100_68504102delinsGAC	GRCh37
NC_000015.8:g.66291154_66291156delinsGAC	NCBI36
NG_008764.2:g.50448_50450delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.397_399delinsGTC MANE Select	ENSP00000249806.5:p.Val133=
ENST00000562767.2:c.84-14136_84-14134delinsGTC	ENSP00000456336.1:n.84-14136_84-14134delinsGTC
ENST00000563917.2:n.239_241delinsGTC
ENST00000565471.6:c.84-2005_84-2003delinsGTC	ENSP00000457384.1:n.84-2005_84-2003delinsGTC
ENST00000635747.1:c.*300_*302delinsGTC	ENSP00000490627.1:n.*300_*302delinsGTC
ENST00000636212.1:c.298-23_298-21delinsGTC	ENSP00000489851.1:n.298-23_298-21delinsGTC
ENST00000636314.1:c.183-446_183-444delinsGTC	ENSP00000490295.1:n.183-446_183-444delinsGTC
ENST00000636674.1:n.1380_1382delinsGTC
ENST00000636964.1:n.1569_1571delinsGTC
ENST00000637054.1:c.198+6772_198+6774delinsGTC	ENSP00000490807.1:n.198+6772_198+6774delinsGTC
ENST00000637223.1:c.*201-446_*201-444delinsGTC	ENSP00000490010.1:n.*201-446_*201-444delinsGTC
ENST00000637329.1:c.366_368delinsGTC
ENST00000637450.1:c.*51_*53delinsGTC	ENSP00000490204.1:n.*51_*53delinsGTC
ENST00000637494.1:c.199-446_199-444delinsGTC	ENSP00000490057.1:n.199-446_199-444delinsGTC
ENST00000637667.1:c.298_300delinsGTC	ENSP00000489843.1:p.Val100=
ENST00000637823.1:c.224-121_224-119delinsGTC
ENST00000637888.1:c.198+6772_198+6774delinsGTC	ENSP00000490546.1:n.198+6772_198+6774delinsGTC
ENST00000638076.1:c.397_399delinsGTC	ENSP00000490373.1:p.Val133=
ENST00000638144.1:n.130-446_130-444delinsGTC
ENST00000646164.1:c.38+6772_38+6774delinsGTC
ENST00000249806.9:c.397_399delinsGTC	ENSP00000249806.5:p.Val133=
ENST00000538696.5:c.493_495delinsGTC	ENSP00000445770.1:p.Val165=
ENST00000562767.1:c.84-14136_84-14134delinsGTC	ENSP00000456336.1:n.84-14136_84-14134delinsGTC
ENST00000563917.1:n.178_180delinsGTC
ENST00000564752.1:c.397_399delinsGTC	ENSP00000457822.1:p.Val133=
ENST00000565471.5:c.84-2005_84-2003delinsGTC	ENSP00000457384.1:n.84-2005_84-2003delinsGTC
ENST00000566347.5:c.298-446_298-444delinsGTC	ENSP00000457783.1:n.298-446_298-444delinsGTC
ENST00000567060.5:c.298-2044_298-2042delinsGTC	ENSP00000454818.1:n.298-2044_298-2042delinsGTC
NM_017882.2:c.397_399delinsGTC	NP_060352.1:p.Val133=
XR_931861.1:n.500_502delinsGTC
NM_017882.3:c.397_399delinsGTC MANE Select	NP_060352.1:p.Val133=