Canonical Allele Identifier: CA2629164950

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211620-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211620C>T , CM000677.2:g.68211620C>T	GRCh38
NC_000015.9:g.68503958C>T , CM000677.1:g.68503958C>T	GRCh37
NC_000015.8:g.66291012C>T	NCBI36
NG_008764.2:g.50592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+55G>A MANE Select	ENSP00000249806.5:n.486+55G>A
ENST00000562767.2:c.84-13992G>A	ENSP00000456336.1:n.84-13992G>A
ENST00000563917.2:n.328+55G>A
ENST00000565471.6:c.84-1861G>A	ENSP00000457384.1:n.84-1861G>A
ENST00000635747.1:c.*389+55G>A	ENSP00000490627.1:n.*389+55G>A
ENST00000636212.1:c.*92G>A	ENSP00000489851.1:n.*92G>A
ENST00000636314.1:c.183-302G>A	ENSP00000490295.1:n.183-302G>A
ENST00000636674.1:n.1524G>A
ENST00000636964.1:n.1713G>A
ENST00000637054.1:c.198+6916G>A	ENSP00000490807.1:n.198+6916G>A
ENST00000637223.1:c.*201-302G>A	ENSP00000490010.1:n.*201-302G>A
ENST00000637329.1:c.455+55G>A
ENST00000637450.1:c.*140+55G>A	ENSP00000490204.1:n.*140+55G>A
ENST00000637494.1:c.199-302G>A	ENSP00000490057.1:n.199-302G>A
ENST00000637667.1:c.387+55G>A	ENSP00000489843.1:n.387+55G>A
ENST00000637823.1:c.247G>A
ENST00000637888.1:c.198+6916G>A	ENSP00000490546.1:n.198+6916G>A
ENST00000638076.1:c.*25G>A	ENSP00000490373.1:n.*25G>A
ENST00000638144.1:n.130-302G>A
ENST00000646164.1:c.38+6916G>A
ENST00000249806.9:c.486+55G>A	ENSP00000249806.5:n.486+55G>A
ENST00000538696.5:c.582+55G>A	ENSP00000445770.1:n.582+55G>A
ENST00000562767.1:c.84-13992G>A	ENSP00000456336.1:n.84-13992G>A
ENST00000563917.1:n.322G>A
ENST00000564752.1:c.512+29G>A	ENSP00000457822.1:n.512+29G>A
ENST00000565471.5:c.84-1861G>A	ENSP00000457384.1:n.84-1861G>A
ENST00000566347.5:c.298-302G>A	ENSP00000457783.1:n.298-302G>A
ENST00000567060.5:c.298-1900G>A	ENSP00000454818.1:n.298-1900G>A
NM_017882.2:c.486+55G>A	NP_060352.1:n.486+55G>A
XR_931861.1:n.644G>A
NM_017882.3:c.486+55G>A MANE Select	NP_060352.1:n.486+55G>A