Canonical Allele Identifier: CA2629164954

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211626-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211628_68211629del , CM000677.2:g.68211628_68211629del	GRCh38
NC_000015.9:g.68503966_68503967del , CM000677.1:g.68503966_68503967del	GRCh37
NC_000015.8:g.66291020_66291021del	NCBI36
NG_008764.2:g.50584_50585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+47_486+48del MANE Select	ENSP00000249806.5:n.486+47_486+48del
ENST00000562767.2:c.84-14000_84-13999del	ENSP00000456336.1:n.84-14000_84-13999del
ENST00000563917.2:n.328+47_328+48del
ENST00000565471.6:c.84-1869_84-1868del	ENSP00000457384.1:n.84-1869_84-1868del
ENST00000635747.1:c.*389+47_*389+48del	ENSP00000490627.1:n.*389+47_*389+48del
ENST00000636212.1:c.*84_*85del	ENSP00000489851.1:n.*84_*85del
ENST00000636314.1:c.183-310_183-309del	ENSP00000490295.1:n.183-310_183-309del
ENST00000636674.1:n.1516_1517del
ENST00000636964.1:n.1705_1706del
ENST00000637054.1:c.198+6908_198+6909del	ENSP00000490807.1:n.198+6908_198+6909del
ENST00000637223.1:c.*201-310_*201-309del	ENSP00000490010.1:n.*201-310_*201-309del
ENST00000637329.1:c.455+47_455+48del
ENST00000637450.1:c.*140+47_*140+48del	ENSP00000490204.1:n.*140+47_*140+48del
ENST00000637494.1:c.199-310_199-309del	ENSP00000490057.1:n.199-310_199-309del
ENST00000637667.1:c.387+47_387+48del	ENSP00000489843.1:n.387+47_387+48del
ENST00000637823.1:c.239_240del
ENST00000637888.1:c.198+6908_198+6909del	ENSP00000490546.1:n.198+6908_198+6909del
ENST00000638076.1:c.*17_*18del	ENSP00000490373.1:n.*17_*18del
ENST00000638144.1:n.130-310_130-309del
ENST00000646164.1:c.38+6908_38+6909del
ENST00000249806.9:c.486+47_486+48del	ENSP00000249806.5:n.486+47_486+48del
ENST00000538696.5:c.582+47_582+48del	ENSP00000445770.1:n.582+47_582+48del
ENST00000562767.1:c.84-14000_84-13999del	ENSP00000456336.1:n.84-14000_84-13999del
ENST00000563917.1:n.314_315del
ENST00000564752.1:c.512+21_512+22del	ENSP00000457822.1:n.512+21_512+22del
ENST00000565471.5:c.84-1869_84-1868del	ENSP00000457384.1:n.84-1869_84-1868del
ENST00000566347.5:c.298-310_298-309del	ENSP00000457783.1:n.298-310_298-309del
ENST00000567060.5:c.298-1908_298-1907del	ENSP00000454818.1:n.298-1908_298-1907del
NM_017882.2:c.486+47_486+48del	NP_060352.1:n.486+47_486+48del
XR_931861.1:n.636_637del
NM_017882.3:c.486+47_486+48del MANE Select	NP_060352.1:n.486+47_486+48del