Canonical Allele Identifier: CA2629161942

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207509-G-GTCCTCTGGTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207509_68207510insTCCTCTGGTGCC , CM000677.2:g.68207509_68207510insTCCTCTGGTGCC	GRCh38
NC_000015.9:g.68499847_68499848insTCCTCTGGTGCC , CM000677.1:g.68499847_68499848insTCCTCTGGTGCC	GRCh37
NC_000015.8:g.66286901_66286902insTCCTCTGGTGCC	NCBI36
NG_008764.2:g.54702_54703insGGCACCAGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*630_*631insGGCACCAGAGGA MANE Select	ENSP00000249806.5:n.*630_*631insGGCACCAGAGGA
ENST00000562767.2:c.84-9882_84-9881insGGCACCAGAGGA	ENSP00000456336.1:n.84-9882_84-9881insGGCACCAGAGGA
ENST00000636964.1:n.3094_3095insGGCACCAGAGGA
ENST00000637054.1:c.199-9882_199-9881insGGCACCAGAGGA	ENSP00000490807.1:n.199-9882_199-9881insGGCACCAGAGGA
ENST00000637888.1:c.199-9882_199-9881insGGCACCAGAGGA	ENSP00000490546.1:n.199-9882_199-9881insGGCACCAGAGGA
ENST00000638026.1:n.171_172insGGCACCAGAGGA
ENST00000638076.1:c.*1169_*1170insGGCACCAGAGGA	ENSP00000490373.1:n.*1169_*1170insGGCACCAGAGGA
ENST00000646164.1:c.39-7829_39-7828insGGCACCAGAGGA
ENST00000249806.9:c.*630_*631insGGCACCAGAGGA	ENSP00000249806.5:n.*630_*631insGGCACCAGAGGA
ENST00000562767.1:c.84-9882_84-9881insGGCACCAGAGGA	ENSP00000456336.1:n.84-9882_84-9881insGGCACCAGAGGA
NM_017882.2:c.*630_*631insGGCACCAGAGGA	NP_060352.1:n.*630_*631insGGCACCAGAGGA
NM_017882.3:c.*630_*631insGGCACCAGAGGA MANE Select	NP_060352.1:n.*630_*631insGGCACCAGAGGA