Canonical Allele Identifier: CA2184878942

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209206_68209213delinsGCCCCTCT , CM000677.2:g.68209206_68209213delinsGCCCCTCT	GRCh38
NC_000015.9:g.68501544_68501551delinsGCCCCTCT , CM000677.1:g.68501544_68501551delinsGCCCCTCT	GRCh37
NC_000015.8:g.66288598_66288605delinsGCCCCTCT	NCBI36
NG_008764.2:g.52999_53006delinsAGAGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+424_665+431delinsAGAGGGGC MANE Select	ENSP00000249806.5:n.665+424_665+431delinsAGAGGGGC
ENST00000562767.2:c.84-11585_84-11578delinsAGAGGGGC	ENSP00000456336.1:n.84-11585_84-11578delinsAGAGGGGC
ENST00000563917.2:n.507+424_507+431delinsAGAGGGGC
ENST00000565471.6:c.206+424_206+431delinsAGAGGGGC	ENSP00000457384.1:n.206+424_206+431delinsAGAGGGGC
ENST00000635747.1:c.*568+424_*568+431delinsAGAGGGGC	ENSP00000490627.1:n.*568+424_*568+431delinsAGAGGGGC
ENST00000636212.1:c.*335+424_*335+431delinsAGAGGGGC	ENSP00000489851.1:n.*335+424_*335+431delinsAGAGGGGC
ENST00000636674.1:n.1767+424_1767+431delinsAGAGGGGC
ENST00000636964.1:n.2193+424_2193+431delinsAGAGGGGC
ENST00000637054.1:c.198+9323_198+9330delinsAGAGGGGC	ENSP00000490807.1:n.198+9323_198+9330delinsAGAGGGGC
ENST00000637329.1:c.634+424_634+431delinsAGAGGGGC
ENST00000637450.1:c.*319+424_*319+431delinsAGAGGGGC	ENSP00000490204.1:n.*319+424_*319+431delinsAGAGGGGC
ENST00000637494.1:c.377+424_377+431delinsAGAGGGGC	ENSP00000490057.1:n.377+424_377+431delinsAGAGGGGC
ENST00000637667.1:c.566+424_566+431delinsAGAGGGGC	ENSP00000489843.1:n.566+424_566+431delinsAGAGGGGC
ENST00000637823.1:c.490+424_490+431delinsAGAGGGGC
ENST00000637888.1:c.198+9323_198+9330delinsAGAGGGGC	ENSP00000490546.1:n.198+9323_198+9330delinsAGAGGGGC
ENST00000638076.1:c.*268+424_*268+431delinsAGAGGGGC	ENSP00000490373.1:n.*268+424_*268+431delinsAGAGGGGC
ENST00000638144.1:n.308+424_308+431delinsAGAGGGGC
ENST00000646164.1:c.38+9323_38+9330delinsAGAGGGGC
ENST00000249806.9:c.665+424_665+431delinsAGAGGGGC	ENSP00000249806.5:n.665+424_665+431delinsAGAGGGGC
ENST00000538696.5:c.761+424_761+431delinsAGAGGGGC	ENSP00000445770.1:n.761+424_761+431delinsAGAGGGGC
ENST00000562767.1:c.84-11585_84-11578delinsAGAGGGGC	ENSP00000456336.1:n.84-11585_84-11578delinsAGAGGGGC
ENST00000564752.1:c.*49+424_*49+431delinsAGAGGGGC	ENSP00000457822.1:n.*49+424_*49+431delinsAGAGGGGC
ENST00000565471.5:c.206+424_206+431delinsAGAGGGGC	ENSP00000457384.1:n.206+424_206+431delinsAGAGGGGC
ENST00000566347.5:c.476+424_476+431delinsAGAGGGGC	ENSP00000457783.1:n.476+424_476+431delinsAGAGGGGC
ENST00000567060.5:c.*63+424_*63+431delinsAGAGGGGC	ENSP00000454818.1:n.*63+424_*63+431delinsAGAGGGGC
NM_017882.2:c.665+424_665+431delinsAGAGGGGC	NP_060352.1:n.665+424_665+431delinsAGAGGGGC
XR_931861.1:n.887+424_887+431delinsAGAGGGGC
NM_017882.3:c.665+424_665+431delinsAGAGGGGC MANE Select	NP_060352.1:n.665+424_665+431delinsAGAGGGGC