Canonical Allele Identifier: CA2629163030

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208051-ACACCCACACCCCCCCTACTCCTGTATTCAGATGCCCTCCATGGCCCACCCTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208058_68208110del , CM000677.2:g.68208058_68208110del	GRCh38
NC_000015.9:g.68500396_68500448del , CM000677.1:g.68500396_68500448del	GRCh37
NC_000015.8:g.66287450_66287502del	NCBI36
NG_008764.2:g.54108_54160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*36_*88del MANE Select	ENSP00000249806.5:n.*36_*88del
ENST00000562767.2:c.84-10476_84-10424del	ENSP00000456336.1:n.84-10476_84-10424del
ENST00000565471.6:c.*36_*88del	ENSP00000457384.1:n.*36_*88del
ENST00000636964.1:n.2500_2552del
ENST00000637054.1:c.198+10432_199-10424del	ENSP00000490807.1:n.198+10432_199-10424del
ENST00000637329.1:c.941_993del
ENST00000637888.1:c.198+10432_199-10424del	ENSP00000490546.1:n.198+10432_199-10424del
ENST00000638076.1:c.*575_*627del	ENSP00000490373.1:n.*575_*627del
ENST00000646164.1:c.39-8423_39-8371del
ENST00000249806.9:c.*36_*88del	ENSP00000249806.5:n.*36_*88del
ENST00000562767.1:c.84-10476_84-10424del	ENSP00000456336.1:n.84-10476_84-10424del
ENST00000565471.5:c.*36_*88del	ENSP00000457384.1:n.*36_*88del
ENST00000566347.5:c.*36_*88del	ENSP00000457783.1:n.*36_*88del
ENST00000567060.5:c.*370_*422del	ENSP00000454818.1:n.*370_*422del
NM_017882.2:c.*36_*88del	NP_060352.1:n.*36_*88del
NM_017882.3:c.*36_*88del MANE Select	NP_060352.1:n.*36_*88del