Canonical Allele Identifier: CA2629164314

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209562-T-TTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209563_68209566dup , CM000677.2:g.68209563_68209566dup	GRCh38
NC_000015.9:g.68501901_68501904dup , CM000677.1:g.68501901_68501904dup	GRCh37
NC_000015.8:g.66288955_66288958dup	NCBI36
NG_008764.2:g.52646_52649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+71_665+74dup MANE Select	ENSP00000249806.5:n.665+71_665+74dup
ENST00000562767.2:c.84-11938_84-11935dup	ENSP00000456336.1:n.84-11938_84-11935dup
ENST00000563917.2:n.507+71_507+74dup
ENST00000565471.6:c.206+71_206+74dup	ENSP00000457384.1:n.206+71_206+74dup
ENST00000635747.1:c.*568+71_*568+74dup	ENSP00000490627.1:n.*568+71_*568+74dup
ENST00000636212.1:c.*335+71_*335+74dup	ENSP00000489851.1:n.*335+71_*335+74dup
ENST00000636674.1:n.1767+71_1767+74dup
ENST00000636964.1:n.2193+71_2193+74dup
ENST00000637054.1:c.198+8970_198+8973dup	ENSP00000490807.1:n.198+8970_198+8973dup
ENST00000637329.1:c.634+71_634+74dup
ENST00000637450.1:c.*319+71_*319+74dup	ENSP00000490204.1:n.*319+71_*319+74dup
ENST00000637494.1:c.377+71_377+74dup	ENSP00000490057.1:n.377+71_377+74dup
ENST00000637667.1:c.566+71_566+74dup	ENSP00000489843.1:n.566+71_566+74dup
ENST00000637823.1:c.490+71_490+74dup
ENST00000637888.1:c.198+8970_198+8973dup	ENSP00000490546.1:n.198+8970_198+8973dup
ENST00000638076.1:c.*268+71_*268+74dup	ENSP00000490373.1:n.*268+71_*268+74dup
ENST00000638144.1:n.308+71_308+74dup
ENST00000646164.1:c.38+8970_38+8973dup
ENST00000249806.9:c.665+71_665+74dup	ENSP00000249806.5:n.665+71_665+74dup
ENST00000538696.5:c.761+71_761+74dup	ENSP00000445770.1:n.761+71_761+74dup
ENST00000562767.1:c.84-11938_84-11935dup	ENSP00000456336.1:n.84-11938_84-11935dup
ENST00000564752.1:c.*49+71_*49+74dup	ENSP00000457822.1:n.*49+71_*49+74dup
ENST00000565471.5:c.206+71_206+74dup	ENSP00000457384.1:n.206+71_206+74dup
ENST00000566347.5:c.476+71_476+74dup	ENSP00000457783.1:n.476+71_476+74dup
ENST00000567060.5:c.*63+71_*63+74dup	ENSP00000454818.1:n.*63+71_*63+74dup
NM_017882.2:c.665+71_665+74dup	NP_060352.1:n.665+71_665+74dup
XR_931861.1:n.887+71_887+74dup
NM_017882.3:c.665+71_665+74dup MANE Select	NP_060352.1:n.665+71_665+74dup