Canonical Allele Identifier: CA2629161951

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207512-G-GGCTCAGAGAACTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207514_68207515insTCAGAGAACTATGC , CM000677.2:g.68207514_68207515insTCAGAGAACTATGC	GRCh38
NC_000015.9:g.68499852_68499853insTCAGAGAACTATGC , CM000677.1:g.68499852_68499853insTCAGAGAACTATGC	GRCh37
NC_000015.8:g.66286906_66286907insTCAGAGAACTATGC	NCBI36
NG_008764.2:g.54699_54700insATAGTTCTCTGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*627_*628insATAGTTCTCTGAGC MANE Select	ENSP00000249806.5:n.*627_*628insATAGTTCTCTGAGC
ENST00000562767.2:c.84-9885_84-9884insATAGTTCTCTGAGC	ENSP00000456336.1:n.84-9885_84-9884insATAGTTCTCTGAGC
ENST00000636964.1:n.3091_3092insATAGTTCTCTGAGC
ENST00000637054.1:c.199-9885_199-9884insATAGTTCTCTGAGC	ENSP00000490807.1:n.199-9885_199-9884insATAGTTCTCTGAGC
ENST00000637888.1:c.199-9885_199-9884insATAGTTCTCTGAGC	ENSP00000490546.1:n.199-9885_199-9884insATAGTTCTCTGAGC
ENST00000638026.1:n.168_169insATAGTTCTCTGAGC
ENST00000638076.1:c.*1166_*1167insATAGTTCTCTGAGC	ENSP00000490373.1:n.*1166_*1167insATAGTTCTCTGAGC
ENST00000646164.1:c.39-7832_39-7831insATAGTTCTCTGAGC
ENST00000249806.9:c.*627_*628insATAGTTCTCTGAGC	ENSP00000249806.5:n.*627_*628insATAGTTCTCTGAGC
ENST00000562767.1:c.84-9885_84-9884insATAGTTCTCTGAGC	ENSP00000456336.1:n.84-9885_84-9884insATAGTTCTCTGAGC
NM_017882.2:c.*627_*628insATAGTTCTCTGAGC	NP_060352.1:n.*627_*628insATAGTTCTCTGAGC
NM_017882.3:c.*627_*628insATAGTTCTCTGAGC MANE Select	NP_060352.1:n.*627_*628insATAGTTCTCTGAGC