Canonical Allele Identifier: CA2804591315

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211966_68211967insACA , CM000677.2:g.68211966_68211967insACA	GRCh38
NC_000015.9:g.68504304_68504305insACA , CM000677.1:g.68504304_68504305insACA	GRCh37
NC_000015.8:g.66291358_66291359insACA	NCBI36
NG_008764.2:g.50245_50246insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-104_298-103insTGT MANE Select	ENSP00000249806.5:n.298-104_298-103insTGT
ENST00000562767.2:c.84-14339_84-14338insTGT	ENSP00000456336.1:n.84-14339_84-14338insTGT
ENST00000563917.2:n.140-104_140-103insTGT
ENST00000565471.6:c.84-2208_84-2207insTGT	ENSP00000457384.1:n.84-2208_84-2207insTGT
ENST00000635747.1:c.*201-104_*201-103insTGT	ENSP00000490627.1:n.*201-104_*201-103insTGT
ENST00000636212.1:c.298-226_298-225insTGT	ENSP00000489851.1:n.298-226_298-225insTGT
ENST00000636314.1:c.183-649_183-648insTGT	ENSP00000490295.1:n.183-649_183-648insTGT
ENST00000636674.1:n.1177_1178insTGT
ENST00000636964.1:n.1366_1367insTGT
ENST00000637054.1:c.198+6569_198+6570insTGT	ENSP00000490807.1:n.198+6569_198+6570insTGT
ENST00000637223.1:c.*201-649_*201-648insTGT	ENSP00000490010.1:n.*201-649_*201-648insTGT
ENST00000637329.1:c.209-46_209-45insTGT
ENST00000637450.1:c.183-104_183-103insTGT	ENSP00000490204.1:n.183-104_183-103insTGT
ENST00000637494.1:c.199-649_199-648insTGT	ENSP00000490057.1:n.199-649_199-648insTGT
ENST00000637667.1:c.199-104_199-103insTGT	ENSP00000489843.1:n.199-104_199-103insTGT
ENST00000637823.1:c.224-324_224-323insTGT
ENST00000637888.1:c.198+6569_198+6570insTGT	ENSP00000490546.1:n.198+6569_198+6570insTGT
ENST00000638076.1:c.298-104_298-103insTGT	ENSP00000490373.1:n.298-104_298-103insTGT
ENST00000638144.1:n.130-649_130-648insTGT
ENST00000646164.1:c.38+6569_38+6570insTGT
ENST00000249806.9:c.298-104_298-103insTGT	ENSP00000249806.5:n.298-104_298-103insTGT
ENST00000538696.5:c.394-104_394-103insTGT	ENSP00000445770.1:n.394-104_394-103insTGT
ENST00000562767.1:c.84-14339_84-14338insTGT	ENSP00000456336.1:n.84-14339_84-14338insTGT
ENST00000563917.1:n.79-104_79-103insTGT
ENST00000564752.1:c.298-104_298-103insTGT	ENSP00000457822.1:n.298-104_298-103insTGT
ENST00000565471.5:c.84-2208_84-2207insTGT	ENSP00000457384.1:n.84-2208_84-2207insTGT
ENST00000566347.5:c.298-649_298-648insTGT	ENSP00000457783.1:n.298-649_298-648insTGT
ENST00000567060.5:c.298-2247_298-2246insTGT	ENSP00000454818.1:n.298-2247_298-2246insTGT
NM_017882.2:c.298-104_298-103insTGT	NP_060352.1:n.298-104_298-103insTGT
XR_931861.1:n.401-104_401-103insTGT
NM_017882.3:c.298-104_298-103insTGT MANE Select	NP_060352.1:n.298-104_298-103insTGT