Canonical Allele Identifier: CA618694649

Gene: CLN6

Linked Data

• dbSNP Id: rs1480723283
• gnomAD v2: 15-68502072-AGAG-A
• MyVariant Identifiers: chr15:g.68502073_68502075del (hg19) ; chr15:g.68209735_68209737del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209737_68209739del , CM000677.2:g.68209737_68209739del	GRCh38
NC_000015.9:g.68502075_68502077del , CM000677.1:g.68502075_68502077del	GRCh37
NC_000015.8:g.66289129_66289131del	NCBI36
NG_008764.2:g.52475_52477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.565_567del MANE Select	ENSP00000249806.5:p.Leu189del
ENST00000562767.2:c.84-12109_84-12107del	ENSP00000456336.1:n.84-12109_84-12107del
ENST00000563917.2:n.407_409del
ENST00000565471.6:c.106_108del	ENSP00000457384.1:p.Leu36del
ENST00000635747.1:c.*468_*470del	ENSP00000490627.1:n.*468_*470del
ENST00000636212.1:c.*235_*237del	ENSP00000489851.1:n.*235_*237del
ENST00000636314.1:c.261_263del	ENSP00000490295.1:p.Ser88del
ENST00000636674.1:n.1667_1669del
ENST00000636964.1:n.2093_2095del
ENST00000637054.1:c.198+8799_198+8801del	ENSP00000490807.1:n.198+8799_198+8801del
ENST00000637223.1:c.*279_*281del	ENSP00000490010.1:n.*279_*281del
ENST00000637329.1:c.534_536del
ENST00000637450.1:c.*219_*221del	ENSP00000490204.1:n.*219_*221del
ENST00000637494.1:c.277_279del	ENSP00000490057.1:p.Leu93del
ENST00000637667.1:c.466_468del	ENSP00000489843.1:p.Leu156del
ENST00000637823.1:c.390_392del
ENST00000637888.1:c.198+8799_198+8801del	ENSP00000490546.1:n.198+8799_198+8801del
ENST00000638076.1:c.*168_*170del	ENSP00000490373.1:n.*168_*170del
ENST00000638144.1:n.208_210del
ENST00000646164.1:c.38+8799_38+8801del
ENST00000249806.9:c.565_567del	ENSP00000249806.5:p.Leu189del
ENST00000538696.5:c.661_663del	ENSP00000445770.1:p.Leu221del
ENST00000562767.1:c.84-12109_84-12107del	ENSP00000456336.1:n.84-12109_84-12107del
ENST00000563917.1:n.465_467del
ENST00000564752.1:c.591_593del	ENSP00000457822.1:p.Ser198del
ENST00000565471.5:c.106_108del	ENSP00000457384.1:p.Leu36del
ENST00000566347.5:c.376_378del	ENSP00000457783.1:p.Leu126del
ENST00000567060.5:c.298-17_298-15del	ENSP00000454818.1:n.298-17_298-15del
NM_017882.2:c.565_567del	NP_060352.1:p.Leu189del
XR_931861.1:n.787_789del
NM_017882.3:c.565_567del MANE Select	NP_060352.1:p.Leu189del