Canonical Allele Identifier: CA2629165143

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211935-CTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211936_68211938del , CM000677.2:g.68211936_68211938del	GRCh38
NC_000015.9:g.68504274_68504276del , CM000677.1:g.68504274_68504276del	GRCh37
NC_000015.8:g.66291328_66291330del	NCBI36
NG_008764.2:g.50274_50276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-75_298-73del MANE Select	ENSP00000249806.5:n.298-75_298-73del
ENST00000562767.2:c.84-14310_84-14308del	ENSP00000456336.1:n.84-14310_84-14308del
ENST00000563917.2:n.140-75_140-73del
ENST00000565471.6:c.84-2179_84-2177del	ENSP00000457384.1:n.84-2179_84-2177del
ENST00000635747.1:c.*201-75_*201-73del	ENSP00000490627.1:n.*201-75_*201-73del
ENST00000636212.1:c.298-197_298-195del	ENSP00000489851.1:n.298-197_298-195del
ENST00000636314.1:c.183-620_183-618del	ENSP00000490295.1:n.183-620_183-618del
ENST00000636674.1:n.1206_1208del
ENST00000636964.1:n.1395_1397del
ENST00000637054.1:c.198+6598_198+6600del	ENSP00000490807.1:n.198+6598_198+6600del
ENST00000637223.1:c.*201-620_*201-618del	ENSP00000490010.1:n.*201-620_*201-618del
ENST00000637329.1:c.209-17_209-15del
ENST00000637450.1:c.183-75_183-73del	ENSP00000490204.1:n.183-75_183-73del
ENST00000637494.1:c.199-620_199-618del	ENSP00000490057.1:n.199-620_199-618del
ENST00000637667.1:c.199-75_199-73del	ENSP00000489843.1:n.199-75_199-73del
ENST00000637823.1:c.224-295_224-293del
ENST00000637888.1:c.198+6598_198+6600del	ENSP00000490546.1:n.198+6598_198+6600del
ENST00000638076.1:c.298-75_298-73del	ENSP00000490373.1:n.298-75_298-73del
ENST00000638144.1:n.130-620_130-618del
ENST00000646164.1:c.38+6598_38+6600del
ENST00000249806.9:c.298-75_298-73del	ENSP00000249806.5:n.298-75_298-73del
ENST00000538696.5:c.394-75_394-73del	ENSP00000445770.1:n.394-75_394-73del
ENST00000562767.1:c.84-14310_84-14308del	ENSP00000456336.1:n.84-14310_84-14308del
ENST00000563917.1:n.79-75_79-73del
ENST00000564752.1:c.298-75_298-73del	ENSP00000457822.1:n.298-75_298-73del
ENST00000565471.5:c.84-2179_84-2177del	ENSP00000457384.1:n.84-2179_84-2177del
ENST00000566347.5:c.298-620_298-618del	ENSP00000457783.1:n.298-620_298-618del
ENST00000567060.5:c.298-2218_298-2216del	ENSP00000454818.1:n.298-2218_298-2216del
NM_017882.2:c.298-75_298-73del	NP_060352.1:n.298-75_298-73del
XR_931861.1:n.401-75_401-73del
NM_017882.3:c.298-75_298-73del MANE Select	NP_060352.1:n.298-75_298-73del