Canonical Allele Identifier: CA2629164052

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208354-A-AAAACAGCAACCCCAGGCTCTGAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208354_68208355insAAACAGCAACCCCAGGCTCTGAAAC , CM000677.2:g.68208354_68208355insAAACAGCAACCCCAGGCTCTGAAAC	GRCh38
NC_000015.9:g.68500692_68500693insAAACAGCAACCCCAGGCTCTGAAAC , CM000677.1:g.68500692_68500693insAAACAGCAACCCCAGGCTCTGAAAC	GRCh37
NC_000015.8:g.66287746_66287747insAAACAGCAACCCCAGGCTCTGAAAC	NCBI36
NG_008764.2:g.53857_53858insGTTTCAGAGCCTGGGGTTGCTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.721_722insGTTTCAGAGCCTGGGGTTGCTGTTT MANE Select	ENSP00000249806.5:p.Met241SerfsTer?
ENST00000562767.2:c.84-10727_84-10726insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000456336.1:n.84-10727_84-10726insGTTTCAGAGCCTGGGGTTGCT...
ENST00000565471.6:c.262_263insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000457384.1:p.Met88SerfsTer?
ENST00000635747.1:c.*624_*625insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000490627.1:n.*624_*625insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000636212.1:c.*391_*392insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000489851.1:n.*391_*392insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000636674.1:n.1823_1824insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000636964.1:n.2249_2250insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000637054.1:c.198+10181_198+10182insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000490807.1:n.198+10181_198+10182insGTTTCAGAGCCTGGGGTTG...
ENST00000637329.1:c.690_691insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000637450.1:c.*375_*376insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000490204.1:n.*375_*376insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000637494.1:c.433_434insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000490057.1:p.Met145SerfsTer?
ENST00000637667.1:c.622_623insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000489843.1:p.Met208SerfsTer?
ENST00000637823.1:c.546_547insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000637888.1:c.198+10181_198+10182insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000490546.1:n.198+10181_198+10182insGTTTCAGAGCCTGGGGTTG...
ENST00000638076.1:c.*324_*325insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000490373.1:n.*324_*325insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000638144.1:n.364_365insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000646164.1:c.39-8674_39-8673insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000249806.9:c.721_722insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000249806.5:p.Met241SerfsTer?
ENST00000538696.5:c.817_818insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000445770.1:p.Met273SerfsTer?
ENST00000562767.1:c.84-10727_84-10726insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000456336.1:n.84-10727_84-10726insGTTTCAGAGCCTGGGGTTGCT...
ENST00000564752.1:c.*105_*106insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000457822.1:n.*105_*106insGTTTCAGAGCCTGGGGTTGCTGTTT
ENST00000565471.5:c.262_263insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000457384.1:p.Met88SerfsTer?
ENST00000566347.5:c.532_533insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000457783.1:p.Met178SerfsTer?
ENST00000567060.5:c.*119_*120insGTTTCAGAGCCTGGGGTTGCTGTTT	ENSP00000454818.1:n.*119_*120insGTTTCAGAGCCTGGGGTTGCTGTTT
NM_017882.2:c.721_722insGTTTCAGAGCCTGGGGTTGCTGTTT	NP_060352.1:p.Met241SerfsTer?
NM_017882.3:c.721_722insGTTTCAGAGCCTGGGGTTGCTGTTT MANE Select	NP_060352.1:p.Met241SerfsTer?