Canonical Allele Identifier: CA1139533028

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208358_68208361del , CM000677.2:g.68208358_68208361del	GRCh38
NC_000015.9:g.68500696_68500699del , CM000677.1:g.68500696_68500699del	GRCh37
NC_000015.8:g.66287750_66287753del	NCBI36
NG_008764.2:g.53851_53854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.715_718del MANE Select	ENSP00000249806.5:p.Phe239ProfsTer29
ENST00000562767.2:c.84-10733_84-10730del	ENSP00000456336.1:n.84-10733_84-10730del
ENST00000565471.6:c.256_259del	ENSP00000457384.1:p.Phe86ProfsTer29
ENST00000635747.1:c.*618_*621del	ENSP00000490627.1:n.*618_*621del
ENST00000636212.1:c.*385_*388del	ENSP00000489851.1:n.*385_*388del
ENST00000636674.1:n.1817_1820del
ENST00000636964.1:n.2243_2246del
ENST00000637054.1:c.198+10175_198+10178del	ENSP00000490807.1:n.198+10175_198+10178del
ENST00000637329.1:c.684_687del
ENST00000637450.1:c.*369_*372del	ENSP00000490204.1:n.*369_*372del
ENST00000637494.1:c.427_430del	ENSP00000490057.1:p.Phe143ProfsTer29
ENST00000637667.1:c.616_619del	ENSP00000489843.1:p.Phe206ProfsTer29
ENST00000637823.1:c.540_543del
ENST00000637888.1:c.198+10175_198+10178del	ENSP00000490546.1:n.198+10175_198+10178del
ENST00000638076.1:c.*318_*321del	ENSP00000490373.1:n.*318_*321del
ENST00000638144.1:n.358_361del
ENST00000646164.1:c.39-8680_39-8677del
ENST00000249806.9:c.715_718del	ENSP00000249806.5:p.Phe239ProfsTer29
ENST00000538696.5:c.811_814del	ENSP00000445770.1:p.Phe271ProfsTer29
ENST00000562767.1:c.84-10733_84-10730del	ENSP00000456336.1:n.84-10733_84-10730del
ENST00000564752.1:c.*99_*102del	ENSP00000457822.1:n.*99_*102del
ENST00000565471.5:c.256_259del	ENSP00000457384.1:p.Phe86ProfsTer29
ENST00000566347.5:c.526_529del	ENSP00000457783.1:p.Phe176ProfsTer29
ENST00000567060.5:c.*113_*116del	ENSP00000454818.1:n.*113_*116del
NM_017882.2:c.715_718del	NP_060352.1:p.Phe239ProfsTer29
NM_017882.3:c.715_718del MANE Select	NP_060352.1:p.Phe239ProfsTer29