Canonical Allele Identifier: CA2629162719

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207979-GACACACACACACACACACACGAATCCACGCACACGAGGCACACCCCACTCATGCTCTCGGTCTCTGGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207986_68208054del , CM000677.2:g.68207986_68208054del	GRCh38
NC_000015.9:g.68500324_68500392del , CM000677.1:g.68500324_68500392del	GRCh37
NC_000015.8:g.66287378_66287446del	NCBI36
NG_008764.2:g.54164_54232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*92_*160del MANE Select	ENSP00000249806.5:n.*92_*160del
ENST00000562767.2:c.84-10420_84-10352del	ENSP00000456336.1:n.84-10420_84-10352del
ENST00000565471.6:c.*92_*160del	ENSP00000457384.1:n.*92_*160del
ENST00000636964.1:n.2556_2624del
ENST00000637054.1:c.199-10420_199-10352del	ENSP00000490807.1:n.199-10420_199-10352del
ENST00000637329.1:c.997_1065del
ENST00000637888.1:c.199-10420_199-10352del	ENSP00000490546.1:n.199-10420_199-10352del
ENST00000638076.1:c.*631_*699del	ENSP00000490373.1:n.*631_*699del
ENST00000646164.1:c.39-8367_39-8299del
ENST00000249806.9:c.*92_*160del	ENSP00000249806.5:n.*92_*160del
ENST00000562767.1:c.84-10420_84-10352del	ENSP00000456336.1:n.84-10420_84-10352del
ENST00000565471.5:c.*92_*160del	ENSP00000457384.1:n.*92_*160del
ENST00000567060.5:c.*426_*494del	ENSP00000454818.1:n.*426_*494del
NM_017882.2:c.*92_*160del	NP_060352.1:n.*92_*160del
NM_017882.3:c.*92_*160del MANE Select	NP_060352.1:n.*92_*160del