Canonical Allele Identifier: CA2575771191
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68218665_68218666del , CM000677.2:g.68218665_68218666del GRCh38
NC_000015.9:g.68511003_68511004del , CM000677.1:g.68511003_68511004del GRCh37
NC_000015.8:g.66298057_66298058del NCBI36
NG_008764.2:g.43547_43548del

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.84-15_84-14del MANE Select ENSP00000249806.5:n.84-15_84-14del
ENST00000562767.2:c.83+10837_83+10838del ENSP00000456336.1:n.83+10837_83+10838del
ENST00000563917.2:n.41-4277_41-4276del
ENST00000565471.6:c.84-8906_84-8905del ENSP00000457384.1:n.84-8906_84-8905del
ENST00000635747.1:c.173-15_173-14del ENSP00000490627.1:n.173-15_173-14del
ENST00000636020.1:n.216-15_216-14del
ENST00000636212.1:c.84-15_84-14del ENSP00000489851.1:n.84-15_84-14del
ENST00000636314.1:c.84-4277_84-4276del ENSP00000490295.1:n.84-4277_84-4276del
ENST00000636876.1:c.*104-15_*104-14del ENSP00000489950.1:n.*104-15_*104-14del
ENST00000637054.1:c.84-15_84-14del ENSP00000490807.1:n.84-15_84-14del
ENST00000637223.1:c.173-15_173-14del ENSP00000490010.1:n.173-15_173-14del
ENST00000637450.1:c.84-4277_84-4276del ENSP00000490204.1:n.84-4277_84-4276del
ENST00000637494.1:c.84-15_84-14del ENSP00000490057.1:n.84-15_84-14del
ENST00000637667.1:c.84-15_84-14del ENSP00000489843.1:n.84-15_84-14del
ENST00000637823.1:c.10-15_10-14del
ENST00000637888.1:c.84-15_84-14del ENSP00000490546.1:n.84-15_84-14del
ENST00000638076.1:c.84-15_84-14del ENSP00000490373.1:n.84-15_84-14del
ENST00000638144.1:n.31-4277_31-4276del
ENST00000249806.9:c.84-15_84-14del ENSP00000249806.5:n.84-15_84-14del
ENST00000538696.5:c.180-15_180-14del ENSP00000445770.1:n.180-15_180-14del
ENST00000562767.1:c.83+10837_83+10838del ENSP00000456336.1:n.83+10837_83+10838del
ENST00000564752.1:c.84-15_84-14del ENSP00000457822.1:n.84-15_84-14del
ENST00000564846.1:n.516-15_516-14del
ENST00000565471.5:c.84-8906_84-8905del ENSP00000457384.1:n.84-8906_84-8905del
ENST00000566347.5:c.84-15_84-14del ENSP00000457783.1:n.84-15_84-14del
ENST00000567060.5:c.84-15_84-14del ENSP00000454818.1:n.84-15_84-14del
ENST00000569336.1:n.170-15_170-14del
NM_017882.2:c.84-15_84-14del NP_060352.1:n.84-15_84-14del
XR_931861.1:n.187-15_187-14del
NM_017882.3:c.84-15_84-14del MANE Select NP_060352.1:n.84-15_84-14del