Canonical Allele Identifier: CA2580089903

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1724445
• ClinVar RCV Id: RCV002309713

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211783_68211784delinsC , CM000677.2:g.68211783_68211784delinsC	GRCh38
NC_000015.9:g.68504121_68504122delinsC , CM000677.1:g.68504121_68504122delinsC	GRCh37
NC_000015.8:g.66291175_66291176delinsC	NCBI36
NG_008764.2:g.50428_50429delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.377_378delinsG MANE Select	ENSP00000249806.5:p.Ile126SerfsTer?
ENST00000562767.2:c.84-14156_84-14155delinsG	ENSP00000456336.1:n.84-14156_84-14155delinsG
ENST00000563917.2:n.219_220delinsG
ENST00000565471.6:c.84-2025_84-2024delinsG	ENSP00000457384.1:n.84-2025_84-2024delinsG
ENST00000635747.1:c.*280_*281delinsG	ENSP00000490627.1:n.*280_*281delinsG
ENST00000636212.1:c.298-43_298-42delinsG	ENSP00000489851.1:n.298-43_298-42delinsG
ENST00000636314.1:c.183-466_183-465delinsG	ENSP00000490295.1:n.183-466_183-465delinsG
ENST00000636674.1:n.1360_1361delinsG
ENST00000636964.1:n.1549_1550delinsG
ENST00000637054.1:c.198+6752_198+6753delinsG	ENSP00000490807.1:n.198+6752_198+6753delinsG
ENST00000637223.1:c.*201-466_*201-465delinsG	ENSP00000490010.1:n.*201-466_*201-465delinsG
ENST00000637329.1:c.346_347delinsG
ENST00000637450.1:c.*31_*32delinsG	ENSP00000490204.1:n.*31_*32delinsG
ENST00000637494.1:c.199-466_199-465delinsG	ENSP00000490057.1:n.199-466_199-465delinsG
ENST00000637667.1:c.278_279delinsG	ENSP00000489843.1:p.Ile93SerfsTer?
ENST00000637823.1:c.224-141_224-140delinsG
ENST00000637888.1:c.198+6752_198+6753delinsG	ENSP00000490546.1:n.198+6752_198+6753delinsG
ENST00000638076.1:c.377_378delinsG	ENSP00000490373.1:p.Ile126SerfsTer?
ENST00000638144.1:n.130-466_130-465delinsG
ENST00000646164.1:c.38+6752_38+6753delinsG
ENST00000249806.9:c.377_378delinsG	ENSP00000249806.5:p.Ile126SerfsTer?
ENST00000538696.5:c.473_474delinsG	ENSP00000445770.1:p.Ile158SerfsTer?
ENST00000562767.1:c.84-14156_84-14155delinsG	ENSP00000456336.1:n.84-14156_84-14155delinsG
ENST00000563917.1:n.158_159delinsG
ENST00000564752.1:c.377_378delinsG	ENSP00000457822.1:p.Ile126SerfsTer?
ENST00000565471.5:c.84-2025_84-2024delinsG	ENSP00000457384.1:n.84-2025_84-2024delinsG
ENST00000566347.5:c.298-466_298-465delinsG	ENSP00000457783.1:n.298-466_298-465delinsG
ENST00000567060.5:c.298-2064_298-2063delinsG	ENSP00000454818.1:n.298-2064_298-2063delinsG
NM_017882.2:c.377_378delinsG	NP_060352.1:p.Ile126SerfsTer?
XR_931861.1:n.480_481delinsG
NM_017882.3:c.377_378delinsG MANE Select	NP_060352.1:p.Ile126SerfsTer?