Canonical Allele Identifier: CA715167899

Gene: CLN6

Linked Data

• dbSNP Id: rs1262762280
• MyVariant Identifiers: chr15:g.68500687del (hg19) ; chr15:g.68208349del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208350del , CM000677.2:g.68208350del	GRCh38
NC_000015.9:g.68500688del , CM000677.1:g.68500688del	GRCh37
NC_000015.8:g.66287742del	NCBI36
NG_008764.2:g.53863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.727del MANE Select	ENSP00000249806.5:p.Ala243ProfsTer26
ENST00000562767.2:c.84-10721del	ENSP00000456336.1:n.84-10721del
ENST00000565471.6:c.268del	ENSP00000457384.1:p.Ala90ProfsTer26
ENST00000635747.1:c.*630del	ENSP00000490627.1:n.*630del
ENST00000636212.1:c.*397del	ENSP00000489851.1:n.*397del
ENST00000636674.1:n.1829del
ENST00000636964.1:n.2255del
ENST00000637054.1:c.198+10187del	ENSP00000490807.1:n.198+10187del
ENST00000637329.1:c.696del
ENST00000637450.1:c.*381del	ENSP00000490204.1:n.*381del
ENST00000637494.1:c.439del	ENSP00000490057.1:p.Ala147ProfsTer26
ENST00000637667.1:c.628del	ENSP00000489843.1:p.Ala210ProfsTer26
ENST00000637823.1:c.552del
ENST00000637888.1:c.198+10187del	ENSP00000490546.1:n.198+10187del
ENST00000638076.1:c.*330del	ENSP00000490373.1:n.*330del
ENST00000638144.1:n.370del
ENST00000646164.1:c.39-8668del
ENST00000249806.9:c.727del	ENSP00000249806.5:p.Ala243ProfsTer26
ENST00000538696.5:c.823del	ENSP00000445770.1:p.Ala275ProfsTer26
ENST00000562767.1:c.84-10721del	ENSP00000456336.1:n.84-10721del
ENST00000564752.1:c.*111del	ENSP00000457822.1:n.*111del
ENST00000565471.5:c.268del	ENSP00000457384.1:p.Ala90ProfsTer26
ENST00000566347.5:c.538del	ENSP00000457783.1:p.Ala180ProfsTer26
ENST00000567060.5:c.*125del	ENSP00000454818.1:n.*125del
NM_017882.2:c.727del	NP_060352.1:p.Ala243ProfsTer26
NM_017882.3:c.727del MANE Select	NP_060352.1:p.Ala243ProfsTer26