Canonical Allele Identifier: CA618697780

Gene: CLN6

Linked Data

• dbSNP Id: rs1389519458
• gnomAD v2: 15-68511021-TTC-T
• gnomAD v4: 15-68218683-TTC-T
• MyVariant Identifiers: chr15:g.68511022_68511023del (hg19) ; chr15:g.68218684_68218685del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218688_68218689del , CM000677.2:g.68218688_68218689del	GRCh38
NC_000015.9:g.68511026_68511027del , CM000677.1:g.68511026_68511027del	GRCh37
NC_000015.8:g.66298080_66298081del	NCBI36
NG_008764.2:g.43527_43528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.84-35_84-34del MANE Select	ENSP00000249806.5:n.84-35_84-34del
ENST00000562767.2:c.83+10817_83+10818del	ENSP00000456336.1:n.83+10817_83+10818del
ENST00000563917.2:n.41-4297_41-4296del
ENST00000565471.6:c.84-8926_84-8925del	ENSP00000457384.1:n.84-8926_84-8925del
ENST00000635747.1:c.173-35_173-34del	ENSP00000490627.1:n.173-35_173-34del
ENST00000636020.1:n.216-35_216-34del
ENST00000636212.1:c.84-35_84-34del	ENSP00000489851.1:n.84-35_84-34del
ENST00000636314.1:c.84-4297_84-4296del	ENSP00000490295.1:n.84-4297_84-4296del
ENST00000636876.1:c.*104-35_*104-34del	ENSP00000489950.1:n.*104-35_*104-34del
ENST00000637054.1:c.84-35_84-34del	ENSP00000490807.1:n.84-35_84-34del
ENST00000637223.1:c.173-35_173-34del	ENSP00000490010.1:n.173-35_173-34del
ENST00000637450.1:c.84-4297_84-4296del	ENSP00000490204.1:n.84-4297_84-4296del
ENST00000637494.1:c.84-35_84-34del	ENSP00000490057.1:n.84-35_84-34del
ENST00000637667.1:c.84-35_84-34del	ENSP00000489843.1:n.84-35_84-34del
ENST00000637823.1:c.10-35_10-34del
ENST00000637888.1:c.84-35_84-34del	ENSP00000490546.1:n.84-35_84-34del
ENST00000638076.1:c.84-35_84-34del	ENSP00000490373.1:n.84-35_84-34del
ENST00000638144.1:n.31-4297_31-4296del
ENST00000249806.9:c.84-35_84-34del	ENSP00000249806.5:n.84-35_84-34del
ENST00000538696.5:c.180-35_180-34del	ENSP00000445770.1:n.180-35_180-34del
ENST00000562767.1:c.83+10817_83+10818del	ENSP00000456336.1:n.83+10817_83+10818del
ENST00000564752.1:c.84-35_84-34del	ENSP00000457822.1:n.84-35_84-34del
ENST00000564846.1:n.516-35_516-34del
ENST00000565471.5:c.84-8926_84-8925del	ENSP00000457384.1:n.84-8926_84-8925del
ENST00000566347.5:c.84-35_84-34del	ENSP00000457783.1:n.84-35_84-34del
ENST00000567060.5:c.84-35_84-34del	ENSP00000454818.1:n.84-35_84-34del
ENST00000569336.1:n.170-35_170-34del
NM_017882.2:c.84-35_84-34del	NP_060352.1:n.84-35_84-34del
XR_931861.1:n.187-35_187-34del
NM_017882.3:c.84-35_84-34del MANE Select	NP_060352.1:n.84-35_84-34del