Canonical Allele Identifier: CA2184877944

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208238_68208247delinsGCCAGGCGAC , CM000677.2:g.68208238_68208247delinsGCCAGGCGAC	GRCh38
NC_000015.9:g.68500576_68500585delinsGCCAGGCGAC , CM000677.1:g.68500576_68500585delinsGCCAGGCGAC	GRCh37
NC_000015.8:g.66287630_66287639delinsGCCAGGCGAC	NCBI36
NG_008764.2:g.53965_53974delinsGTCGCCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.829_838delinsGTCGCCTGGC MANE Select	ENSP00000249806.5:p.Val277=
ENST00000562767.2:c.84-10619_84-10610delinsGTCGCCTGGC	ENSP00000456336.1:n.84-10619_84-10610delinsGTCGCCTGGC
ENST00000565471.6:c.370_379delinsGTCGCCTGGC	ENSP00000457384.1:p.Val124=
ENST00000635747.1:c.*732_*741delinsGTCGCCTGGC	ENSP00000490627.1:n.*732_*741delinsGTCGCCTGGC
ENST00000636212.1:c.*499_*508delinsGTCGCCTGGC	ENSP00000489851.1:n.*499_*508delinsGTCGCCTGGC
ENST00000636674.1:n.1931_1940delinsGTCGCCTGGC
ENST00000636964.1:n.2357_2366delinsGTCGCCTGGC
ENST00000637054.1:c.198+10289_198+10298delinsGTCGCCTGGC	ENSP00000490807.1:n.198+10289_198+10298delinsGTCGCCTGGC
ENST00000637329.1:c.798_807delinsGTCGCCTGGC
ENST00000637450.1:c.*483_*492delinsGTCGCCTGGC	ENSP00000490204.1:n.*483_*492delinsGTCGCCTGGC
ENST00000637494.1:c.541_550delinsGTCGCCTGGC	ENSP00000490057.1:p.Val181=
ENST00000637667.1:c.730_739delinsGTCGCCTGGC	ENSP00000489843.1:p.Val244=
ENST00000637823.1:c.654_663delinsGTCGCCTGGC
ENST00000637888.1:c.198+10289_198+10298delinsGTCGCCTGGC	ENSP00000490546.1:n.198+10289_198+10298delinsGTCGCCTGGC
ENST00000638076.1:c.*432_*441delinsGTCGCCTGGC	ENSP00000490373.1:n.*432_*441delinsGTCGCCTGGC
ENST00000638144.1:n.472_481delinsGTCGCCTGGC
ENST00000646164.1:c.39-8566_39-8557delinsGTCGCCTGGC
ENST00000249806.9:c.829_838delinsGTCGCCTGGC	ENSP00000249806.5:p.Val277=
ENST00000538696.5:c.925_934delinsGTCGCCTGGC	ENSP00000445770.1:p.Val309=
ENST00000562767.1:c.84-10619_84-10610delinsGTCGCCTGGC	ENSP00000456336.1:n.84-10619_84-10610delinsGTCGCCTGGC
ENST00000565471.5:c.370_379delinsGTCGCCTGGC	ENSP00000457384.1:p.Val124=
ENST00000566347.5:c.640_649delinsGTCGCCTGGC	ENSP00000457783.1:p.Val214=
ENST00000567060.5:c.*227_*236delinsGTCGCCTGGC	ENSP00000454818.1:n.*227_*236delinsGTCGCCTGGC
NM_017882.2:c.829_838delinsGTCGCCTGGC	NP_060352.1:p.Val277=
NM_017882.3:c.829_838delinsGTCGCCTGGC MANE Select	NP_060352.1:p.Val277=