Canonical Allele Identifier: CA2804593097

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68229421_68229512del , CM000677.2:g.68229421_68229512del	GRCh38
NC_000015.9:g.68521759_68521850del , CM000677.1:g.68521759_68521850del	GRCh37
NC_000015.8:g.66308813_66308904del	NCBI36
NG_008764.2:g.32704_32795del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.77_83+85del
ENST00000562767.2:c.77_83+85del
ENST00000563917.2:n.41-15120_41-15029del
ENST00000565471.6:c.77_83+85del
ENST00000635747.1:c.173-10858_173-10767del	ENSP00000490627.1:n.173-10858_173-10767del
ENST00000636020.1:n.209_215+85del
ENST00000636212.1:c.77_83+85del
ENST00000636314.1:c.77_83+85del
ENST00000636876.1:c.*104-10858_*104-10767del	ENSP00000489950.1:n.*104-10858_*104-10767del
ENST00000637054.1:c.77_83+85del
ENST00000637223.1:c.173-10858_173-10767del	ENSP00000490010.1:n.173-10858_173-10767del
ENST00000637450.1:c.77_83+85del
ENST00000637494.1:c.77_83+85del
ENST00000637667.1:c.77_83+85del
ENST00000637888.1:c.77_83+85del
ENST00000638076.1:c.77_83+85del
ENST00000638144.1:n.31-15120_31-15029del
ENST00000249806.9:c.77_83+85del
ENST00000538696.5:c.180-10858_180-10767del	ENSP00000445770.1:n.180-10858_180-10767del
ENST00000562767.1:c.77_83+85del
ENST00000564752.1:c.77_83+85del
ENST00000564846.1:n.516-10858_516-10767del
ENST00000565471.5:c.77_83+85del
ENST00000566347.5:c.77_83+85del
ENST00000567060.5:c.77_83+85del
ENST00000569336.1:n.163_169+85del
NM_017882.2:c.77_83+85del
XR_931861.1:n.180_186+85del
NM_017882.3:c.77_83+85del