Canonical Allele Identifier: CA2184876889

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207608_68207609delinsAT , CM000677.2:g.68207608_68207609delinsAT	GRCh38
NC_000015.9:g.68499946_68499947delinsAT , CM000677.1:g.68499946_68499947delinsAT	GRCh37
NC_000015.8:g.66287000_66287001delinsAT	NCBI36
NG_008764.2:g.54603_54604delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*531_*532delinsAT MANE Select	ENSP00000249806.5:n.*531_*532delinsAT
ENST00000562767.2:c.84-9981_84-9980delinsAT	ENSP00000456336.1:n.84-9981_84-9980delinsAT
ENST00000636964.1:n.2995_2996delinsAT
ENST00000637054.1:c.199-9981_199-9980delinsAT	ENSP00000490807.1:n.199-9981_199-9980delinsAT
ENST00000637888.1:c.199-9981_199-9980delinsAT	ENSP00000490546.1:n.199-9981_199-9980delinsAT
ENST00000638026.1:n.72_73delinsAT
ENST00000638076.1:c.*1070_*1071delinsAT	ENSP00000490373.1:n.*1070_*1071delinsAT
ENST00000646164.1:c.39-7928_39-7927delinsAT
ENST00000249806.9:c.*531_*532delinsAT	ENSP00000249806.5:n.*531_*532delinsAT
ENST00000562767.1:c.84-9981_84-9980delinsAT	ENSP00000456336.1:n.84-9981_84-9980delinsAT
NM_017882.2:c.*531_*532delinsAT	NP_060352.1:n.*531_*532delinsAT
NM_017882.3:c.*531_*532delinsAT MANE Select	NP_060352.1:n.*531_*532delinsAT