Canonical Allele Identifier: CA2804592363

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208352_68208353insATCTT , CM000677.2:g.68208352_68208353insATCTT	GRCh38
NC_000015.9:g.68500690_68500691insATCTT , CM000677.1:g.68500690_68500691insATCTT	GRCh37
NC_000015.8:g.66287744_66287745insATCTT	NCBI36
NG_008764.2:g.53859_53860insAAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.723_724insAAGAT MANE Select	ENSP00000249806.5:p.Leu242LysfsTer29
ENST00000562767.2:c.84-10725_84-10724insAAGAT	ENSP00000456336.1:n.84-10725_84-10724insAAGAT
ENST00000565471.6:c.264_265insAAGAT	ENSP00000457384.1:p.Leu89LysfsTer29
ENST00000635747.1:c.*626_*627insAAGAT	ENSP00000490627.1:n.*626_*627insAAGAT
ENST00000636212.1:c.*393_*394insAAGAT	ENSP00000489851.1:n.*393_*394insAAGAT
ENST00000636674.1:n.1825_1826insAAGAT
ENST00000636964.1:n.2251_2252insAAGAT
ENST00000637054.1:c.198+10183_198+10184insAAGAT	ENSP00000490807.1:n.198+10183_198+10184insAAGAT
ENST00000637329.1:c.692_693insAAGAT
ENST00000637450.1:c.*377_*378insAAGAT	ENSP00000490204.1:n.*377_*378insAAGAT
ENST00000637494.1:c.435_436insAAGAT	ENSP00000490057.1:p.Leu146LysfsTer29
ENST00000637667.1:c.624_625insAAGAT	ENSP00000489843.1:p.Leu209LysfsTer29
ENST00000637823.1:c.548_549insAAGAT
ENST00000637888.1:c.198+10183_198+10184insAAGAT	ENSP00000490546.1:n.198+10183_198+10184insAAGAT
ENST00000638076.1:c.*326_*327insAAGAT	ENSP00000490373.1:n.*326_*327insAAGAT
ENST00000638144.1:n.366_367insAAGAT
ENST00000646164.1:c.39-8672_39-8671insAAGAT
ENST00000249806.9:c.723_724insAAGAT	ENSP00000249806.5:p.Leu242LysfsTer29
ENST00000538696.5:c.819_820insAAGAT	ENSP00000445770.1:p.Leu274LysfsTer29
ENST00000562767.1:c.84-10725_84-10724insAAGAT	ENSP00000456336.1:n.84-10725_84-10724insAAGAT
ENST00000564752.1:c.*107_*108insAAGAT	ENSP00000457822.1:n.*107_*108insAAGAT
ENST00000565471.5:c.264_265insAAGAT	ENSP00000457384.1:p.Leu89LysfsTer29
ENST00000566347.5:c.534_535insAAGAT	ENSP00000457783.1:p.Leu179LysfsTer29
ENST00000567060.5:c.*121_*122insAAGAT	ENSP00000454818.1:n.*121_*122insAAGAT
NM_017882.2:c.723_724insAAGAT	NP_060352.1:p.Leu242LysfsTer29
NM_017882.3:c.723_724insAAGAT MANE Select	NP_060352.1:p.Leu242LysfsTer29