Canonical Allele Identifier: CA2629163029

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208051-ACACCCACACCCCCCCTACTCCTGTATTCAGATGCCCTCCATGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208057_68208101del , CM000677.2:g.68208057_68208101del	GRCh38
NC_000015.9:g.68500395_68500439del , CM000677.1:g.68500395_68500439del	GRCh37
NC_000015.8:g.66287449_66287493del	NCBI36
NG_008764.2:g.54116_54160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*44_*88del MANE Select	ENSP00000249806.5:n.*44_*88del
ENST00000562767.2:c.84-10468_84-10424del	ENSP00000456336.1:n.84-10468_84-10424del
ENST00000565471.6:c.*44_*88del	ENSP00000457384.1:n.*44_*88del
ENST00000636964.1:n.2508_2552del
ENST00000637054.1:c.198+10440_199-10424del	ENSP00000490807.1:n.198+10440_199-10424del
ENST00000637329.1:c.949_993del
ENST00000637888.1:c.198+10440_199-10424del	ENSP00000490546.1:n.198+10440_199-10424del
ENST00000638076.1:c.*583_*627del	ENSP00000490373.1:n.*583_*627del
ENST00000646164.1:c.39-8415_39-8371del
ENST00000249806.9:c.*44_*88del	ENSP00000249806.5:n.*44_*88del
ENST00000562767.1:c.84-10468_84-10424del	ENSP00000456336.1:n.84-10468_84-10424del
ENST00000565471.5:c.*44_*88del	ENSP00000457384.1:n.*44_*88del
ENST00000566347.5:c.*44_*88del	ENSP00000457783.1:n.*44_*88del
ENST00000567060.5:c.*378_*422del	ENSP00000454818.1:n.*378_*422del
NM_017882.2:c.*44_*88del	NP_060352.1:n.*44_*88del
NM_017882.3:c.*44_*88del MANE Select	NP_060352.1:n.*44_*88del