Canonical Allele Identifier: CA2804591285

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211898_68211899insAACACACCCAACACA , CM000677.2:g.68211898_68211899insAACACACCCAACACA	GRCh38
NC_000015.9:g.68504236_68504237insAACACACCCAACACA , CM000677.1:g.68504236_68504237insAACACACCCAACACA	GRCh37
NC_000015.8:g.66291290_66291291insAACACACCCAACACA	NCBI36
NG_008764.2:g.50315_50316insTGTTGGGTGTGTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-34_298-33insTGTTGGGTGTGTTTG MANE Select	ENSP00000249806.5:n.298-34_298-33insTGTTGGGTGTGTTTG
ENST00000562767.2:c.84-14269_84-14268insTGTTGGGTGTGTTTG	ENSP00000456336.1:n.84-14269_84-14268insTGTTGGGTGTGTTTG
ENST00000563917.2:n.140-34_140-33insTGTTGGGTGTGTTTG
ENST00000565471.6:c.84-2138_84-2137insTGTTGGGTGTGTTTG	ENSP00000457384.1:n.84-2138_84-2137insTGTTGGGTGTGTTTG
ENST00000635747.1:c.*201-34_*201-33insTGTTGGGTGTGTTTG	ENSP00000490627.1:n.*201-34_*201-33insTGTTGGGTGTGTTTG
ENST00000636212.1:c.298-156_298-155insTGTTGGGTGTGTTTG	ENSP00000489851.1:n.298-156_298-155insTGTTGGGTGTGTTTG
ENST00000636314.1:c.183-579_183-578insTGTTGGGTGTGTTTG	ENSP00000490295.1:n.183-579_183-578insTGTTGGGTGTGTTTG
ENST00000636674.1:n.1247_1248insTGTTGGGTGTGTTTG
ENST00000636964.1:n.1436_1437insTGTTGGGTGTGTTTG
ENST00000637054.1:c.198+6639_198+6640insTGTTGGGTGTGTTTG	ENSP00000490807.1:n.198+6639_198+6640insTGTTGGGTGTGTTTG
ENST00000637223.1:c.*201-579_*201-578insTGTTGGGTGTGTTTG	ENSP00000490010.1:n.*201-579_*201-578insTGTTGGGTGTGTTTG
ENST00000637329.1:c.233_234insTGTTGGGTGTGTTTG
ENST00000637450.1:c.183-34_183-33insTGTTGGGTGTGTTTG	ENSP00000490204.1:n.183-34_183-33insTGTTGGGTGTGTTTG
ENST00000637494.1:c.199-579_199-578insTGTTGGGTGTGTTTG	ENSP00000490057.1:n.199-579_199-578insTGTTGGGTGTGTTTG
ENST00000637667.1:c.199-34_199-33insTGTTGGGTGTGTTTG	ENSP00000489843.1:n.199-34_199-33insTGTTGGGTGTGTTTG
ENST00000637823.1:c.224-254_224-253insTGTTGGGTGTGTTTG
ENST00000637888.1:c.198+6639_198+6640insTGTTGGGTGTGTTTG	ENSP00000490546.1:n.198+6639_198+6640insTGTTGGGTGTGTTTG
ENST00000638076.1:c.298-34_298-33insTGTTGGGTGTGTTTG	ENSP00000490373.1:n.298-34_298-33insTGTTGGGTGTGTTTG
ENST00000638144.1:n.130-579_130-578insTGTTGGGTGTGTTTG
ENST00000646164.1:c.38+6639_38+6640insTGTTGGGTGTGTTTG
ENST00000249806.9:c.298-34_298-33insTGTTGGGTGTGTTTG	ENSP00000249806.5:n.298-34_298-33insTGTTGGGTGTGTTTG
ENST00000538696.5:c.394-34_394-33insTGTTGGGTGTGTTTG	ENSP00000445770.1:n.394-34_394-33insTGTTGGGTGTGTTTG
ENST00000562767.1:c.84-14269_84-14268insTGTTGGGTGTGTTTG	ENSP00000456336.1:n.84-14269_84-14268insTGTTGGGTGTGTTTG
ENST00000563917.1:n.79-34_79-33insTGTTGGGTGTGTTTG
ENST00000564752.1:c.298-34_298-33insTGTTGGGTGTGTTTG	ENSP00000457822.1:n.298-34_298-33insTGTTGGGTGTGTTTG
ENST00000565471.5:c.84-2138_84-2137insTGTTGGGTGTGTTTG	ENSP00000457384.1:n.84-2138_84-2137insTGTTGGGTGTGTTTG
ENST00000566347.5:c.298-579_298-578insTGTTGGGTGTGTTTG	ENSP00000457783.1:n.298-579_298-578insTGTTGGGTGTGTTTG
ENST00000567060.5:c.298-2177_298-2176insTGTTGGGTGTGTTTG	ENSP00000454818.1:n.298-2177_298-2176insTGTTGGGTGTGTTTG
NM_017882.2:c.298-34_298-33insTGTTGGGTGTGTTTG	NP_060352.1:n.298-34_298-33insTGTTGGGTGTGTTTG
XR_931861.1:n.401-34_401-33insTGTTGGGTGTGTTTG
NM_017882.3:c.298-34_298-33insTGTTGGGTGTGTTTG MANE Select	NP_060352.1:n.298-34_298-33insTGTTGGGTGTGTTTG