Canonical Allele Identifier: CA490913171

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504188_68504189insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211850_68211851insC , CM000677.2:g.68211850_68211851insC	GRCh38
NC_000015.9:g.68504188_68504189insC , CM000677.1:g.68504188_68504189insC	GRCh37
NC_000015.8:g.66291242_66291243insC	NCBI36
NG_008764.2:g.50361_50362insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.310_311insG MANE Select	ENSP00000249806.5:p.Ser104CysfsTer28
ENST00000562767.2:c.84-14223_84-14222insG	ENSP00000456336.1:n.84-14223_84-14222insG
ENST00000563917.2:n.152_153insG
ENST00000565471.6:c.84-2092_84-2091insG	ENSP00000457384.1:n.84-2092_84-2091insG
ENST00000635747.1:c.*213_*214insG	ENSP00000490627.1:n.*213_*214insG
ENST00000636212.1:c.298-110_298-109insG	ENSP00000489851.1:n.298-110_298-109insG
ENST00000636314.1:c.183-533_183-532insG	ENSP00000490295.1:n.183-533_183-532insG
ENST00000636674.1:n.1293_1294insG
ENST00000636964.1:n.1482_1483insG
ENST00000637054.1:c.198+6685_198+6686insG	ENSP00000490807.1:n.198+6685_198+6686insG
ENST00000637223.1:c.*201-533_*201-532insG	ENSP00000490010.1:n.*201-533_*201-532insG
ENST00000637329.1:c.279_280insG
ENST00000637450.1:c.195_196insG	ENSP00000490204.1:p.Pro66AlafsTer?
ENST00000637494.1:c.199-533_199-532insG	ENSP00000490057.1:n.199-533_199-532insG
ENST00000637667.1:c.211_212insG	ENSP00000489843.1:p.Ser71CysfsTer28
ENST00000637823.1:c.224-208_224-207insG
ENST00000637888.1:c.198+6685_198+6686insG	ENSP00000490546.1:n.198+6685_198+6686insG
ENST00000638076.1:c.310_311insG	ENSP00000490373.1:p.Ser104CysfsTer28
ENST00000638144.1:n.130-533_130-532insG
ENST00000646164.1:c.38+6685_38+6686insG
ENST00000249806.9:c.310_311insG	ENSP00000249806.5:p.Ser104CysfsTer28
ENST00000538696.5:c.406_407insG	ENSP00000445770.1:p.Ser136CysfsTer28
ENST00000562767.1:c.84-14223_84-14222insG	ENSP00000456336.1:n.84-14223_84-14222insG
ENST00000563917.1:n.91_92insG
ENST00000564752.1:c.310_311insG	ENSP00000457822.1:p.Ser104CysfsTer28
ENST00000565471.5:c.84-2092_84-2091insG	ENSP00000457384.1:n.84-2092_84-2091insG
ENST00000566347.5:c.298-533_298-532insG	ENSP00000457783.1:n.298-533_298-532insG
ENST00000567060.5:c.298-2131_298-2130insG	ENSP00000454818.1:n.298-2131_298-2130insG
NM_017882.2:c.310_311insG	NP_060352.1:p.Ser104CysfsTer28
XR_931861.1:n.413_414insG
NM_017882.3:c.310_311insG MANE Select	NP_060352.1:p.Ser104CysfsTer28