Canonical Allele Identifier: CA2629162337

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207789-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207791del , CM000677.2:g.68207791del	GRCh38
NC_000015.9:g.68500129del , CM000677.1:g.68500129del	GRCh37
NC_000015.8:g.66287183del	NCBI36
NG_008764.2:g.54422del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*350del MANE Select	ENSP00000249806.5:n.*350del
ENST00000562767.2:c.84-10162del	ENSP00000456336.1:n.84-10162del
ENST00000565471.6:c.*350del	ENSP00000457384.1:n.*350del
ENST00000636964.1:n.2814del
ENST00000637054.1:c.199-10162del	ENSP00000490807.1:n.199-10162del
ENST00000637888.1:c.199-10162del	ENSP00000490546.1:n.199-10162del
ENST00000638076.1:c.*889del	ENSP00000490373.1:n.*889del
ENST00000646164.1:c.39-8109del
ENST00000249806.9:c.*350del	ENSP00000249806.5:n.*350del
ENST00000562767.1:c.84-10162del	ENSP00000456336.1:n.84-10162del
ENST00000565471.5:c.*350del	ENSP00000457384.1:n.*350del
NM_017882.2:c.*350del	NP_060352.1:n.*350del
NM_017882.3:c.*350del MANE Select	NP_060352.1:n.*350del