Canonical Allele Identifier: CA2629164357

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209715-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209716del , CM000677.2:g.68209716del	GRCh38
NC_000015.9:g.68502054del , CM000677.1:g.68502054del	GRCh37
NC_000015.8:g.66289108del	NCBI36
NG_008764.2:g.52496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.586del MANE Select	ENSP00000249806.5:p.Cys196AlafsTer10
ENST00000562767.2:c.84-12088del	ENSP00000456336.1:n.84-12088del
ENST00000563917.2:n.428del
ENST00000565471.6:c.127del	ENSP00000457384.1:p.Cys43AlafsTer10
ENST00000635747.1:c.*489del	ENSP00000490627.1:n.*489del
ENST00000636212.1:c.*256del	ENSP00000489851.1:n.*256del
ENST00000636314.1:c.282del	ENSP00000490295.1:p.Ala95LeufsTer5
ENST00000636674.1:n.1688del
ENST00000636964.1:n.2114del
ENST00000637054.1:c.198+8820del	ENSP00000490807.1:n.198+8820del
ENST00000637223.1:c.*300del	ENSP00000490010.1:n.*300del
ENST00000637329.1:c.555del
ENST00000637450.1:c.*240del	ENSP00000490204.1:n.*240del
ENST00000637494.1:c.298del	ENSP00000490057.1:p.Cys100AlafsTer10
ENST00000637667.1:c.487del	ENSP00000489843.1:p.Cys163AlafsTer10
ENST00000637823.1:c.411del
ENST00000637888.1:c.198+8820del	ENSP00000490546.1:n.198+8820del
ENST00000638076.1:c.*189del	ENSP00000490373.1:n.*189del
ENST00000638144.1:n.229del
ENST00000646164.1:c.38+8820del
ENST00000249806.9:c.586del	ENSP00000249806.5:p.Cys196AlafsTer10
ENST00000538696.5:c.682del	ENSP00000445770.1:p.Cys228AlafsTer10
ENST00000562767.1:c.84-12088del	ENSP00000456336.1:n.84-12088del
ENST00000563917.1:n.486del
ENST00000564752.1:c.612del	ENSP00000457822.1:p.Ala205LeufsTer5
ENST00000565471.5:c.127del	ENSP00000457384.1:p.Cys43AlafsTer10
ENST00000566347.5:c.397del	ENSP00000457783.1:p.Cys133AlafsTer10
ENST00000567060.5:c.302del	ENSP00000454818.1:p.Leu101ArgfsTer?
NM_017882.2:c.586del	NP_060352.1:p.Cys196AlafsTer10
XR_931861.1:n.808del
NM_017882.3:c.586del MANE Select	NP_060352.1:p.Cys196AlafsTer10