Canonical Allele Identifier: CA272383297

Gene: CLN6

Linked Data

• dbSNP Id: rs201166065
• gnomAD v2: 15-68501566-CTCA-C
• gnomAD v3: 15-68209228-CTCA-C
• gnomAD v4: 15-68209228-CTCA-C
• MyVariant Identifiers: chr15:g.68501567_68501569del (hg19) ; chr15:g.68209229_68209231del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209234_68209236del , CM000677.2:g.68209234_68209236del	GRCh38
NC_000015.9:g.68501572_68501574del , CM000677.1:g.68501572_68501574del	GRCh37
NC_000015.8:g.66288626_66288628del	NCBI36
NG_008764.2:g.52981_52983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+406_665+408del MANE Select	ENSP00000249806.5:n.665+406_665+408del
ENST00000562767.2:c.84-11603_84-11601del	ENSP00000456336.1:n.84-11603_84-11601del
ENST00000563917.2:n.507+406_507+408del
ENST00000565471.6:c.206+406_206+408del	ENSP00000457384.1:n.206+406_206+408del
ENST00000635747.1:c.*568+406_*568+408del	ENSP00000490627.1:n.*568+406_*568+408del
ENST00000636212.1:c.*335+406_*335+408del	ENSP00000489851.1:n.*335+406_*335+408del
ENST00000636674.1:n.1767+406_1767+408del
ENST00000636964.1:n.2193+406_2193+408del
ENST00000637054.1:c.198+9305_198+9307del	ENSP00000490807.1:n.198+9305_198+9307del
ENST00000637329.1:c.634+406_634+408del
ENST00000637450.1:c.*319+406_*319+408del	ENSP00000490204.1:n.*319+406_*319+408del
ENST00000637494.1:c.377+406_377+408del	ENSP00000490057.1:n.377+406_377+408del
ENST00000637667.1:c.566+406_566+408del	ENSP00000489843.1:n.566+406_566+408del
ENST00000637823.1:c.490+406_490+408del
ENST00000637888.1:c.198+9305_198+9307del	ENSP00000490546.1:n.198+9305_198+9307del
ENST00000638076.1:c.*268+406_*268+408del	ENSP00000490373.1:n.*268+406_*268+408del
ENST00000638144.1:n.308+406_308+408del
ENST00000646164.1:c.38+9305_38+9307del
ENST00000249806.9:c.665+406_665+408del	ENSP00000249806.5:n.665+406_665+408del
ENST00000538696.5:c.761+406_761+408del	ENSP00000445770.1:n.761+406_761+408del
ENST00000562767.1:c.84-11603_84-11601del	ENSP00000456336.1:n.84-11603_84-11601del
ENST00000564752.1:c.*49+406_*49+408del	ENSP00000457822.1:n.*49+406_*49+408del
ENST00000565471.5:c.206+406_206+408del	ENSP00000457384.1:n.206+406_206+408del
ENST00000566347.5:c.476+406_476+408del	ENSP00000457783.1:n.476+406_476+408del
ENST00000567060.5:c.*63+406_*63+408del	ENSP00000454818.1:n.*63+406_*63+408del
NM_017882.2:c.665+406_665+408del	NP_060352.1:n.665+406_665+408del
XR_931861.1:n.887+406_887+408del
NM_017882.3:c.665+406_665+408del MANE Select	NP_060352.1:n.665+406_665+408del