Canonical Allele Identifier: CA715168702

Gene: CLN6

Linked Data

• dbSNP Id: rs1249918229
• MyVariant Identifiers: chr15:g.68501692_68501693del (hg19) ; chr15:g.68209354_68209355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209354_68209355del , CM000677.2:g.68209354_68209355del	GRCh38
NC_000015.9:g.68501692_68501693del , CM000677.1:g.68501692_68501693del	GRCh37
NC_000015.8:g.66288746_66288747del	NCBI36
NG_008764.2:g.52857_52858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+282_665+283del MANE Select	ENSP00000249806.5:n.665+282_665+283del
ENST00000562767.2:c.84-11727_84-11726del	ENSP00000456336.1:n.84-11727_84-11726del
ENST00000563917.2:n.507+282_507+283del
ENST00000565471.6:c.206+282_206+283del	ENSP00000457384.1:n.206+282_206+283del
ENST00000635747.1:c.*568+282_*568+283del	ENSP00000490627.1:n.*568+282_*568+283del
ENST00000636212.1:c.*335+282_*335+283del	ENSP00000489851.1:n.*335+282_*335+283del
ENST00000636674.1:n.1767+282_1767+283del
ENST00000636964.1:n.2193+282_2193+283del
ENST00000637054.1:c.198+9181_198+9182del	ENSP00000490807.1:n.198+9181_198+9182del
ENST00000637329.1:c.634+282_634+283del
ENST00000637450.1:c.*319+282_*319+283del	ENSP00000490204.1:n.*319+282_*319+283del
ENST00000637494.1:c.377+282_377+283del	ENSP00000490057.1:n.377+282_377+283del
ENST00000637667.1:c.566+282_566+283del	ENSP00000489843.1:n.566+282_566+283del
ENST00000637823.1:c.490+282_490+283del
ENST00000637888.1:c.198+9181_198+9182del	ENSP00000490546.1:n.198+9181_198+9182del
ENST00000638076.1:c.*268+282_*268+283del	ENSP00000490373.1:n.*268+282_*268+283del
ENST00000638144.1:n.308+282_308+283del
ENST00000646164.1:c.38+9181_38+9182del
ENST00000249806.9:c.665+282_665+283del	ENSP00000249806.5:n.665+282_665+283del
ENST00000538696.5:c.761+282_761+283del	ENSP00000445770.1:n.761+282_761+283del
ENST00000562767.1:c.84-11727_84-11726del	ENSP00000456336.1:n.84-11727_84-11726del
ENST00000564752.1:c.*49+282_*49+283del	ENSP00000457822.1:n.*49+282_*49+283del
ENST00000565471.5:c.206+282_206+283del	ENSP00000457384.1:n.206+282_206+283del
ENST00000566347.5:c.476+282_476+283del	ENSP00000457783.1:n.476+282_476+283del
ENST00000567060.5:c.*63+282_*63+283del	ENSP00000454818.1:n.*63+282_*63+283del
NM_017882.2:c.665+282_665+283del	NP_060352.1:n.665+282_665+283del
XR_931861.1:n.887+282_887+283del
NM_017882.3:c.665+282_665+283del MANE Select	NP_060352.1:n.665+282_665+283del