Canonical Allele Identifier: CA2804591319

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211969_68211970del , CM000677.2:g.68211969_68211970del	GRCh38
NC_000015.9:g.68504307_68504308del , CM000677.1:g.68504307_68504308del	GRCh37
NC_000015.8:g.66291361_66291362del	NCBI36
NG_008764.2:g.50242_50243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-107_298-106del MANE Select	ENSP00000249806.5:n.298-107_298-106del
ENST00000562767.2:c.84-14342_84-14341del	ENSP00000456336.1:n.84-14342_84-14341del
ENST00000563917.2:n.140-107_140-106del
ENST00000565471.6:c.84-2211_84-2210del	ENSP00000457384.1:n.84-2211_84-2210del
ENST00000635747.1:c.*201-107_*201-106del	ENSP00000490627.1:n.*201-107_*201-106del
ENST00000636212.1:c.298-229_298-228del	ENSP00000489851.1:n.298-229_298-228del
ENST00000636314.1:c.183-652_183-651del	ENSP00000490295.1:n.183-652_183-651del
ENST00000636674.1:n.1174_1175del
ENST00000636964.1:n.1363_1364del
ENST00000637054.1:c.198+6566_198+6567del	ENSP00000490807.1:n.198+6566_198+6567del
ENST00000637223.1:c.*201-652_*201-651del	ENSP00000490010.1:n.*201-652_*201-651del
ENST00000637329.1:c.209-49_209-48del
ENST00000637450.1:c.183-107_183-106del	ENSP00000490204.1:n.183-107_183-106del
ENST00000637494.1:c.199-652_199-651del	ENSP00000490057.1:n.199-652_199-651del
ENST00000637667.1:c.199-107_199-106del	ENSP00000489843.1:n.199-107_199-106del
ENST00000637823.1:c.224-327_224-326del
ENST00000637888.1:c.198+6566_198+6567del	ENSP00000490546.1:n.198+6566_198+6567del
ENST00000638076.1:c.298-107_298-106del	ENSP00000490373.1:n.298-107_298-106del
ENST00000638144.1:n.130-652_130-651del
ENST00000646164.1:c.38+6566_38+6567del
ENST00000249806.9:c.298-107_298-106del	ENSP00000249806.5:n.298-107_298-106del
ENST00000538696.5:c.394-107_394-106del	ENSP00000445770.1:n.394-107_394-106del
ENST00000562767.1:c.84-14342_84-14341del	ENSP00000456336.1:n.84-14342_84-14341del
ENST00000563917.1:n.79-107_79-106del
ENST00000564752.1:c.298-107_298-106del	ENSP00000457822.1:n.298-107_298-106del
ENST00000565471.5:c.84-2211_84-2210del	ENSP00000457384.1:n.84-2211_84-2210del
ENST00000566347.5:c.298-652_298-651del	ENSP00000457783.1:n.298-652_298-651del
ENST00000567060.5:c.298-2250_298-2249del	ENSP00000454818.1:n.298-2250_298-2249del
NM_017882.2:c.298-107_298-106del	NP_060352.1:n.298-107_298-106del
XR_931861.1:n.401-107_401-106del
NM_017882.3:c.298-107_298-106del MANE Select	NP_060352.1:n.298-107_298-106del