Canonical Allele Identifier: CA2629165147

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211938-ACACCTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211939_68211945del , CM000677.2:g.68211939_68211945del	GRCh38
NC_000015.9:g.68504277_68504283del , CM000677.1:g.68504277_68504283del	GRCh37
NC_000015.8:g.66291331_66291337del	NCBI36
NG_008764.2:g.50267_50273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-82_298-76del MANE Select	ENSP00000249806.5:n.298-82_298-76del
ENST00000562767.2:c.84-14317_84-14311del	ENSP00000456336.1:n.84-14317_84-14311del
ENST00000563917.2:n.140-82_140-76del
ENST00000565471.6:c.84-2186_84-2180del	ENSP00000457384.1:n.84-2186_84-2180del
ENST00000635747.1:c.*201-82_*201-76del	ENSP00000490627.1:n.*201-82_*201-76del
ENST00000636212.1:c.298-204_298-198del	ENSP00000489851.1:n.298-204_298-198del
ENST00000636314.1:c.183-627_183-621del	ENSP00000490295.1:n.183-627_183-621del
ENST00000636674.1:n.1199_1205del
ENST00000636964.1:n.1388_1394del
ENST00000637054.1:c.198+6591_198+6597del	ENSP00000490807.1:n.198+6591_198+6597del
ENST00000637223.1:c.*201-627_*201-621del	ENSP00000490010.1:n.*201-627_*201-621del
ENST00000637329.1:c.209-24_209-18del
ENST00000637450.1:c.183-82_183-76del	ENSP00000490204.1:n.183-82_183-76del
ENST00000637494.1:c.199-627_199-621del	ENSP00000490057.1:n.199-627_199-621del
ENST00000637667.1:c.199-82_199-76del	ENSP00000489843.1:n.199-82_199-76del
ENST00000637823.1:c.224-302_224-296del
ENST00000637888.1:c.198+6591_198+6597del	ENSP00000490546.1:n.198+6591_198+6597del
ENST00000638076.1:c.298-82_298-76del	ENSP00000490373.1:n.298-82_298-76del
ENST00000638144.1:n.130-627_130-621del
ENST00000646164.1:c.38+6591_38+6597del
ENST00000249806.9:c.298-82_298-76del	ENSP00000249806.5:n.298-82_298-76del
ENST00000538696.5:c.394-82_394-76del	ENSP00000445770.1:n.394-82_394-76del
ENST00000562767.1:c.84-14317_84-14311del	ENSP00000456336.1:n.84-14317_84-14311del
ENST00000563917.1:n.79-82_79-76del
ENST00000564752.1:c.298-82_298-76del	ENSP00000457822.1:n.298-82_298-76del
ENST00000565471.5:c.84-2186_84-2180del	ENSP00000457384.1:n.84-2186_84-2180del
ENST00000566347.5:c.298-627_298-621del	ENSP00000457783.1:n.298-627_298-621del
ENST00000567060.5:c.298-2225_298-2219del	ENSP00000454818.1:n.298-2225_298-2219del
NM_017882.2:c.298-82_298-76del	NP_060352.1:n.298-82_298-76del
XR_931861.1:n.401-82_401-76del
NM_017882.3:c.298-82_298-76del MANE Select	NP_060352.1:n.298-82_298-76del