Canonical Allele Identifier: CA2629165172

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211951-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211952_68211953del , CM000677.2:g.68211952_68211953del	GRCh38
NC_000015.9:g.68504290_68504291del , CM000677.1:g.68504290_68504291del	GRCh37
NC_000015.8:g.66291344_66291345del	NCBI36
NG_008764.2:g.50259_50260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-90_298-89del MANE Select	ENSP00000249806.5:n.298-90_298-89del
ENST00000562767.2:c.84-14325_84-14324del	ENSP00000456336.1:n.84-14325_84-14324del
ENST00000563917.2:n.140-90_140-89del
ENST00000565471.6:c.84-2194_84-2193del	ENSP00000457384.1:n.84-2194_84-2193del
ENST00000635747.1:c.*201-90_*201-89del	ENSP00000490627.1:n.*201-90_*201-89del
ENST00000636212.1:c.298-212_298-211del	ENSP00000489851.1:n.298-212_298-211del
ENST00000636314.1:c.183-635_183-634del	ENSP00000490295.1:n.183-635_183-634del
ENST00000636674.1:n.1191_1192del
ENST00000636964.1:n.1380_1381del
ENST00000637054.1:c.198+6583_198+6584del	ENSP00000490807.1:n.198+6583_198+6584del
ENST00000637223.1:c.*201-635_*201-634del	ENSP00000490010.1:n.*201-635_*201-634del
ENST00000637329.1:c.209-32_209-31del
ENST00000637450.1:c.183-90_183-89del	ENSP00000490204.1:n.183-90_183-89del
ENST00000637494.1:c.199-635_199-634del	ENSP00000490057.1:n.199-635_199-634del
ENST00000637667.1:c.199-90_199-89del	ENSP00000489843.1:n.199-90_199-89del
ENST00000637823.1:c.224-310_224-309del
ENST00000637888.1:c.198+6583_198+6584del	ENSP00000490546.1:n.198+6583_198+6584del
ENST00000638076.1:c.298-90_298-89del	ENSP00000490373.1:n.298-90_298-89del
ENST00000638144.1:n.130-635_130-634del
ENST00000646164.1:c.38+6583_38+6584del
ENST00000249806.9:c.298-90_298-89del	ENSP00000249806.5:n.298-90_298-89del
ENST00000538696.5:c.394-90_394-89del	ENSP00000445770.1:n.394-90_394-89del
ENST00000562767.1:c.84-14325_84-14324del	ENSP00000456336.1:n.84-14325_84-14324del
ENST00000563917.1:n.79-90_79-89del
ENST00000564752.1:c.298-90_298-89del	ENSP00000457822.1:n.298-90_298-89del
ENST00000565471.5:c.84-2194_84-2193del	ENSP00000457384.1:n.84-2194_84-2193del
ENST00000566347.5:c.298-635_298-634del	ENSP00000457783.1:n.298-635_298-634del
ENST00000567060.5:c.298-2233_298-2232del	ENSP00000454818.1:n.298-2233_298-2232del
NM_017882.2:c.298-90_298-89del	NP_060352.1:n.298-90_298-89del
XR_931861.1:n.401-90_401-89del
NM_017882.3:c.298-90_298-89del MANE Select	NP_060352.1:n.298-90_298-89del