Canonical Allele Identifier: CA2184872884

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211868_68211871delinsGGTT , CM000677.2:g.68211868_68211871delinsGGTT	GRCh38
NC_000015.9:g.68504206_68504209delinsGGTT , CM000677.1:g.68504206_68504209delinsGGTT	GRCh37
NC_000015.8:g.66291260_66291263delinsGGTT	NCBI36
NG_008764.2:g.50341_50344delinsAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-8_298-5delinsAACC MANE Select	ENSP00000249806.5:n.298-8_298-5delinsAACC
ENST00000562767.2:c.84-14243_84-14240delinsAACC	ENSP00000456336.1:n.84-14243_84-14240delinsAACC
ENST00000563917.2:n.140-8_140-5delinsAACC
ENST00000565471.6:c.84-2112_84-2109delinsAACC	ENSP00000457384.1:n.84-2112_84-2109delinsAACC
ENST00000635747.1:c.*201-8_*201-5delinsAACC	ENSP00000490627.1:n.*201-8_*201-5delinsAACC
ENST00000636212.1:c.298-130_298-127delinsAACC	ENSP00000489851.1:n.298-130_298-127delinsAACC
ENST00000636314.1:c.183-553_183-550delinsAACC	ENSP00000490295.1:n.183-553_183-550delinsAACC
ENST00000636674.1:n.1273_1276delinsAACC
ENST00000636964.1:n.1462_1465delinsAACC
ENST00000637054.1:c.198+6665_198+6668delinsAACC	ENSP00000490807.1:n.198+6665_198+6668delinsAACC
ENST00000637223.1:c.*201-553_*201-550delinsAACC	ENSP00000490010.1:n.*201-553_*201-550delinsAACC
ENST00000637329.1:c.259_262delinsAACC
ENST00000637450.1:c.183-8_183-5delinsAACC	ENSP00000490204.1:n.183-8_183-5delinsAACC
ENST00000637494.1:c.199-553_199-550delinsAACC	ENSP00000490057.1:n.199-553_199-550delinsAACC
ENST00000637667.1:c.199-8_199-5delinsAACC	ENSP00000489843.1:n.199-8_199-5delinsAACC
ENST00000637823.1:c.224-228_224-225delinsAACC
ENST00000637888.1:c.198+6665_198+6668delinsAACC	ENSP00000490546.1:n.198+6665_198+6668delinsAACC
ENST00000638076.1:c.298-8_298-5delinsAACC	ENSP00000490373.1:n.298-8_298-5delinsAACC
ENST00000638144.1:n.130-553_130-550delinsAACC
ENST00000646164.1:c.38+6665_38+6668delinsAACC
ENST00000249806.9:c.298-8_298-5delinsAACC	ENSP00000249806.5:n.298-8_298-5delinsAACC
ENST00000538696.5:c.394-8_394-5delinsAACC	ENSP00000445770.1:n.394-8_394-5delinsAACC
ENST00000562767.1:c.84-14243_84-14240delinsAACC	ENSP00000456336.1:n.84-14243_84-14240delinsAACC
ENST00000563917.1:n.79-8_79-5delinsAACC
ENST00000564752.1:c.298-8_298-5delinsAACC	ENSP00000457822.1:n.298-8_298-5delinsAACC
ENST00000565471.5:c.84-2112_84-2109delinsAACC	ENSP00000457384.1:n.84-2112_84-2109delinsAACC
ENST00000566347.5:c.298-553_298-550delinsAACC	ENSP00000457783.1:n.298-553_298-550delinsAACC
ENST00000567060.5:c.298-2151_298-2148delinsAACC	ENSP00000454818.1:n.298-2151_298-2148delinsAACC
NM_017882.2:c.298-8_298-5delinsAACC	NP_060352.1:n.298-8_298-5delinsAACC
XR_931861.1:n.401-8_401-5delinsAACC
NM_017882.3:c.298-8_298-5delinsAACC MANE Select	NP_060352.1:n.298-8_298-5delinsAACC