Canonical Allele Identifier: CA2184872474

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211704_68211705delinsTG , CM000677.2:g.68211704_68211705delinsTG	GRCh38
NC_000015.9:g.68504042_68504043delinsTG , CM000677.1:g.68504042_68504043delinsTG	GRCh37
NC_000015.8:g.66291096_66291097delinsTG	NCBI36
NG_008764.2:g.50507_50508delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.456_457delinsCA MANE Select	ENSP00000249806.5:p.Pro152=
ENST00000562767.2:c.84-14077_84-14076delinsCA	ENSP00000456336.1:n.84-14077_84-14076delinsCA
ENST00000563917.2:n.298_299delinsCA
ENST00000565471.6:c.84-1946_84-1945delinsCA	ENSP00000457384.1:n.84-1946_84-1945delinsCA
ENST00000635747.1:c.*359_*360delinsCA	ENSP00000490627.1:n.*359_*360delinsCA
ENST00000636212.1:c.*7_*8delinsCA	ENSP00000489851.1:n.*7_*8delinsCA
ENST00000636314.1:c.183-387_183-386delinsCA	ENSP00000490295.1:n.183-387_183-386delinsCA
ENST00000636674.1:n.1439_1440delinsCA
ENST00000636964.1:n.1628_1629delinsCA
ENST00000637054.1:c.198+6831_198+6832delinsCA	ENSP00000490807.1:n.198+6831_198+6832delinsCA
ENST00000637223.1:c.*201-387_*201-386delinsCA	ENSP00000490010.1:n.*201-387_*201-386delinsCA
ENST00000637329.1:c.425_426delinsCA
ENST00000637450.1:c.*110_*111delinsCA	ENSP00000490204.1:n.*110_*111delinsCA
ENST00000637494.1:c.199-387_199-386delinsCA	ENSP00000490057.1:n.199-387_199-386delinsCA
ENST00000637667.1:c.357_358delinsCA	ENSP00000489843.1:p.Pro119=
ENST00000637823.1:c.224-62_224-61delinsCA
ENST00000637888.1:c.198+6831_198+6832delinsCA	ENSP00000490546.1:n.198+6831_198+6832delinsCA
ENST00000638076.1:c.456_457delinsCA	ENSP00000490373.1:p.Pro152=
ENST00000638144.1:n.130-387_130-386delinsCA
ENST00000646164.1:c.38+6831_38+6832delinsCA
ENST00000249806.9:c.456_457delinsCA	ENSP00000249806.5:p.Pro152=
ENST00000538696.5:c.552_553delinsCA	ENSP00000445770.1:p.Pro184=
ENST00000562767.1:c.84-14077_84-14076delinsCA	ENSP00000456336.1:n.84-14077_84-14076delinsCA
ENST00000563917.1:n.237_238delinsCA
ENST00000564752.1:c.456_457delinsCA	ENSP00000457822.1:p.Pro152=
ENST00000565471.5:c.84-1946_84-1945delinsCA	ENSP00000457384.1:n.84-1946_84-1945delinsCA
ENST00000566347.5:c.298-387_298-386delinsCA	ENSP00000457783.1:n.298-387_298-386delinsCA
ENST00000567060.5:c.298-1985_298-1984delinsCA	ENSP00000454818.1:n.298-1985_298-1984delinsCA
NM_017882.2:c.456_457delinsCA	NP_060352.1:p.Pro152=
XR_931861.1:n.559_560delinsCA
NM_017882.3:c.456_457delinsCA MANE Select	NP_060352.1:p.Pro152=