Canonical Allele Identifier: CA2184879045

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209299_68209300delinsAC , CM000677.2:g.68209299_68209300delinsAC	GRCh38
NC_000015.9:g.68501637_68501638delinsAC , CM000677.1:g.68501637_68501638delinsAC	GRCh37
NC_000015.8:g.66288691_66288692delinsAC	NCBI36
NG_008764.2:g.52912_52913delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+337_665+338delinsGT MANE Select	ENSP00000249806.5:n.665+337_665+338delinsGT
ENST00000562767.2:c.84-11672_84-11671delinsGT	ENSP00000456336.1:n.84-11672_84-11671delinsGT
ENST00000563917.2:n.507+337_507+338delinsGT
ENST00000565471.6:c.206+337_206+338delinsGT	ENSP00000457384.1:n.206+337_206+338delinsGT
ENST00000635747.1:c.*568+337_*568+338delinsGT	ENSP00000490627.1:n.*568+337_*568+338delinsGT
ENST00000636212.1:c.*335+337_*335+338delinsGT	ENSP00000489851.1:n.*335+337_*335+338delinsGT
ENST00000636674.1:n.1767+337_1767+338delinsGT
ENST00000636964.1:n.2193+337_2193+338delinsGT
ENST00000637054.1:c.198+9236_198+9237delinsGT	ENSP00000490807.1:n.198+9236_198+9237delinsGT
ENST00000637329.1:c.634+337_634+338delinsGT
ENST00000637450.1:c.*319+337_*319+338delinsGT	ENSP00000490204.1:n.*319+337_*319+338delinsGT
ENST00000637494.1:c.377+337_377+338delinsGT	ENSP00000490057.1:n.377+337_377+338delinsGT
ENST00000637667.1:c.566+337_566+338delinsGT	ENSP00000489843.1:n.566+337_566+338delinsGT
ENST00000637823.1:c.490+337_490+338delinsGT
ENST00000637888.1:c.198+9236_198+9237delinsGT	ENSP00000490546.1:n.198+9236_198+9237delinsGT
ENST00000638076.1:c.*268+337_*268+338delinsGT	ENSP00000490373.1:n.*268+337_*268+338delinsGT
ENST00000638144.1:n.308+337_308+338delinsGT
ENST00000646164.1:c.38+9236_38+9237delinsGT
ENST00000249806.9:c.665+337_665+338delinsGT	ENSP00000249806.5:n.665+337_665+338delinsGT
ENST00000538696.5:c.761+337_761+338delinsGT	ENSP00000445770.1:n.761+337_761+338delinsGT
ENST00000562767.1:c.84-11672_84-11671delinsGT	ENSP00000456336.1:n.84-11672_84-11671delinsGT
ENST00000564752.1:c.*49+337_*49+338delinsGT	ENSP00000457822.1:n.*49+337_*49+338delinsGT
ENST00000565471.5:c.206+337_206+338delinsGT	ENSP00000457384.1:n.206+337_206+338delinsGT
ENST00000566347.5:c.476+337_476+338delinsGT	ENSP00000457783.1:n.476+337_476+338delinsGT
ENST00000567060.5:c.*63+337_*63+338delinsGT	ENSP00000454818.1:n.*63+337_*63+338delinsGT
NM_017882.2:c.665+337_665+338delinsGT	NP_060352.1:n.665+337_665+338delinsGT
XR_931861.1:n.887+337_887+338delinsGT
NM_017882.3:c.665+337_665+338delinsGT MANE Select	NP_060352.1:n.665+337_665+338delinsGT