Canonical Allele Identifier: CA2804592501

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218699_68218705del , CM000677.2:g.68218699_68218705del	GRCh38
NC_000015.9:g.68511037_68511043del , CM000677.1:g.68511037_68511043del	GRCh37
NC_000015.8:g.66298091_66298097del	NCBI36
NG_008764.2:g.43508_43514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.84-54_84-48del MANE Select	ENSP00000249806.5:n.84-54_84-48del
ENST00000562767.2:c.83+10798_83+10804del	ENSP00000456336.1:n.83+10798_83+10804del
ENST00000563917.2:n.41-4316_41-4310del
ENST00000565471.6:c.84-8945_84-8939del	ENSP00000457384.1:n.84-8945_84-8939del
ENST00000635747.1:c.173-54_173-48del	ENSP00000490627.1:n.173-54_173-48del
ENST00000636020.1:n.216-54_216-48del
ENST00000636212.1:c.84-54_84-48del	ENSP00000489851.1:n.84-54_84-48del
ENST00000636314.1:c.84-4316_84-4310del	ENSP00000490295.1:n.84-4316_84-4310del
ENST00000636876.1:c.*104-54_*104-48del	ENSP00000489950.1:n.*104-54_*104-48del
ENST00000637054.1:c.84-54_84-48del	ENSP00000490807.1:n.84-54_84-48del
ENST00000637223.1:c.173-54_173-48del	ENSP00000490010.1:n.173-54_173-48del
ENST00000637450.1:c.84-4316_84-4310del	ENSP00000490204.1:n.84-4316_84-4310del
ENST00000637494.1:c.84-54_84-48del	ENSP00000490057.1:n.84-54_84-48del
ENST00000637667.1:c.84-54_84-48del	ENSP00000489843.1:n.84-54_84-48del
ENST00000637823.1:c.10-54_10-48del
ENST00000637888.1:c.84-54_84-48del	ENSP00000490546.1:n.84-54_84-48del
ENST00000638076.1:c.84-54_84-48del	ENSP00000490373.1:n.84-54_84-48del
ENST00000638144.1:n.31-4316_31-4310del
ENST00000249806.9:c.84-54_84-48del	ENSP00000249806.5:n.84-54_84-48del
ENST00000538696.5:c.180-54_180-48del	ENSP00000445770.1:n.180-54_180-48del
ENST00000562767.1:c.83+10798_83+10804del	ENSP00000456336.1:n.83+10798_83+10804del
ENST00000564752.1:c.84-54_84-48del	ENSP00000457822.1:n.84-54_84-48del
ENST00000564846.1:n.516-54_516-48del
ENST00000565471.5:c.84-8945_84-8939del	ENSP00000457384.1:n.84-8945_84-8939del
ENST00000566347.5:c.84-54_84-48del	ENSP00000457783.1:n.84-54_84-48del
ENST00000567060.5:c.84-54_84-48del	ENSP00000454818.1:n.84-54_84-48del
ENST00000569336.1:n.170-54_170-48del
NM_017882.2:c.84-54_84-48del	NP_060352.1:n.84-54_84-48del
XR_931861.1:n.187-54_187-48del
NM_017882.3:c.84-54_84-48del MANE Select	NP_060352.1:n.84-54_84-48del