Canonical Allele Identifier: CA1757673112

Gene: CLN8

Linked Data

• dbSNP Id: rs1801671976

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780283_1780285dup , CM000670.2:g.1780283_1780285dup	GRCh38
NC_000008.10:g.1728449_1728451dup , CM000670.1:g.1728449_1728451dup	GRCh37
NC_000008.9:g.1715856_1715858dup	NCBI36
NG_008656.2:g.29506_29508dup , LRG_691:g.29506_29508dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.577_579dup MANE Select	ENSP00000328182.4:p.Asn193_Gln194insAsn
ENST00000519254.2:c.577_579dup	ENSP00000490016.1:p.Asn193_Gln194insAsn
ENST00000520991.3:c.639_641dup	ENSP00000487905.2:p.Thr214_Ser215insThr
ENST00000635751.1:c.577_579dup	ENSP00000489694.1:p.Asn193_Gln194insAsn
ENST00000635773.1:c.496+8686_496+8688dup
ENST00000635855.1:c.543+8686_543+8688dup	ENSP00000489726.1:n.543+8686_543+8688dup
ENST00000635970.1:c.577_579dup	ENSP00000490439.1:p.Asn193_Gln194insAsn
ENST00000636175.1:c.343+8686_343+8688dup
ENST00000636934.1:c.543+8686_543+8688dup	ENSP00000490218.1:n.543+8686_543+8688dup
ENST00000637083.1:c.577_579dup	ENSP00000490235.1:p.Asn193_Gln194insAsn
ENST00000637156.1:c.577_579dup	ENSP00000490458.1:p.Asn193_Gln194insAsn
ENST00000331222.4:c.577_579dup	ENSP00000328182.4:p.Asn193_Gln194insAsn
ENST00000519254.1:n.96_98dup
ENST00000523237.1:n.352_354dup
NM_018941.3:c.577_579dup , LRG_691t1:c.577_579dup	NP_061764.2:p.Asn193_Gln194insAsn
XM_005266021.3:c.577_579dup	XP_005266078.1:p.Asn193_Gln194insAsn
XM_005266022.1:c.577_579dup	XP_005266079.1:p.Asn193_Gln194insAsn
XM_005266023.1:c.577_579dup	XP_005266080.1:p.Asn193_Gln194insAsn
XM_011534745.1:c.577_579dup	XP_011533047.1:p.Asn193_Gln194insAsn
XM_011534746.1:c.577_579dup	XP_011533048.1:p.Asn193_Gln194insAsn
XM_005266021.4:c.577_579dup	XP_005266078.1:p.Asn193_Gln194insAsn
XM_011534746.2:c.577_579dup	XP_011533048.1:p.Asn193_Gln194insAsn
NM_018941.4:c.577_579dup MANE Select	NP_061764.2:p.Asn193_Gln194insAsn