Canonical Allele Identifier: CA2184872882

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211865_68211866delinsTG , CM000677.2:g.68211865_68211866delinsTG	GRCh38
NC_000015.9:g.68504203_68504204delinsTG , CM000677.1:g.68504203_68504204delinsTG	GRCh37
NC_000015.8:g.66291257_66291258delinsTG	NCBI36
NG_008764.2:g.50346_50347delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-3_298-2delinsCA MANE Select	ENSP00000249806.5:n.298-3_298-2delinsCA
ENST00000562767.2:c.84-14238_84-14237delinsCA	ENSP00000456336.1:n.84-14238_84-14237delinsCA
ENST00000563917.2:n.140-3_140-2delinsCA
ENST00000565471.6:c.84-2107_84-2106delinsCA	ENSP00000457384.1:n.84-2107_84-2106delinsCA
ENST00000635747.1:c.*201-3_*201-2delinsCA	ENSP00000490627.1:n.*201-3_*201-2delinsCA
ENST00000636212.1:c.298-125_298-124delinsCA	ENSP00000489851.1:n.298-125_298-124delinsCA
ENST00000636314.1:c.183-548_183-547delinsCA	ENSP00000490295.1:n.183-548_183-547delinsCA
ENST00000636674.1:n.1278_1279delinsCA
ENST00000636964.1:n.1467_1468delinsCA
ENST00000637054.1:c.198+6670_198+6671delinsCA	ENSP00000490807.1:n.198+6670_198+6671delinsCA
ENST00000637223.1:c.*201-548_*201-547delinsCA	ENSP00000490010.1:n.*201-548_*201-547delinsCA
ENST00000637329.1:c.264_265delinsCA
ENST00000637450.1:c.183-3_183-2delinsCA	ENSP00000490204.1:n.183-3_183-2delinsCA
ENST00000637494.1:c.199-548_199-547delinsCA	ENSP00000490057.1:n.199-548_199-547delinsCA
ENST00000637667.1:c.199-3_199-2delinsCA	ENSP00000489843.1:n.199-3_199-2delinsCA
ENST00000637823.1:c.224-223_224-222delinsCA
ENST00000637888.1:c.198+6670_198+6671delinsCA	ENSP00000490546.1:n.198+6670_198+6671delinsCA
ENST00000638076.1:c.298-3_298-2delinsCA	ENSP00000490373.1:n.298-3_298-2delinsCA
ENST00000638144.1:n.130-548_130-547delinsCA
ENST00000646164.1:c.38+6670_38+6671delinsCA
ENST00000249806.9:c.298-3_298-2delinsCA	ENSP00000249806.5:n.298-3_298-2delinsCA
ENST00000538696.5:c.394-3_394-2delinsCA	ENSP00000445770.1:n.394-3_394-2delinsCA
ENST00000562767.1:c.84-14238_84-14237delinsCA	ENSP00000456336.1:n.84-14238_84-14237delinsCA
ENST00000563917.1:n.79-3_79-2delinsCA
ENST00000564752.1:c.298-3_298-2delinsCA	ENSP00000457822.1:n.298-3_298-2delinsCA
ENST00000565471.5:c.84-2107_84-2106delinsCA	ENSP00000457384.1:n.84-2107_84-2106delinsCA
ENST00000566347.5:c.298-548_298-547delinsCA	ENSP00000457783.1:n.298-548_298-547delinsCA
ENST00000567060.5:c.298-2146_298-2145delinsCA	ENSP00000454818.1:n.298-2146_298-2145delinsCA
NM_017882.2:c.298-3_298-2delinsCA	NP_060352.1:n.298-3_298-2delinsCA
XR_931861.1:n.401-3_401-2delinsCA
NM_017882.3:c.298-3_298-2delinsCA MANE Select	NP_060352.1:n.298-3_298-2delinsCA