Canonical Allele Identifier: CA715166894

Gene: CLN6

Linked Data

• dbSNP Id: rs1386552751
• gnomAD v4: 15-68207785-A-ACCAGAAGATGT
• MyVariant Identifiers: chr15:g.68500123_68500124insCCAGAAGATGT (hg19) ; chr15:g.68207785_68207786insCCAGAAGATGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207788_68207798dup , CM000677.2:g.68207788_68207798dup	GRCh38
NC_000015.9:g.68500126_68500136dup , CM000677.1:g.68500126_68500136dup	GRCh37
NC_000015.8:g.66287180_66287190dup	NCBI36
NG_008764.2:g.54416_54426dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*344_*354dup MANE Select	ENSP00000249806.5:n.*344_*354dup
ENST00000562767.2:c.84-10168_84-10158dup	ENSP00000456336.1:n.84-10168_84-10158dup
ENST00000565471.6:c.*344_*354dup	ENSP00000457384.1:n.*344_*354dup
ENST00000636964.1:n.2808_2818dup
ENST00000637054.1:c.199-10168_199-10158dup	ENSP00000490807.1:n.199-10168_199-10158du...
ENST00000637888.1:c.199-10168_199-10158dup	ENSP00000490546.1:n.199-10168_199-10158du...
ENST00000638076.1:c.*883_*893dup	ENSP00000490373.1:n.*883_*893dup
ENST00000646164.1:c.39-8115_39-8105dup
ENST00000249806.9:c.*344_*354dup	ENSP00000249806.5:n.*344_*354dup
ENST00000562767.1:c.84-10168_84-10158dup	ENSP00000456336.1:n.84-10168_84-10158dup
ENST00000565471.5:c.*344_*354dup	ENSP00000457384.1:n.*344_*354dup
NM_017882.2:c.*344_*354dup	NP_060352.1:n.*344_*354dup
NM_017882.3:c.*344_*354dup MANE Select	NP_060352.1:n.*344_*354dup