Canonical Allele Identifier: CA7630613

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1363826
• ClinVar RCV Id: RCV001937197 ; RCV003487808
• dbSNP Id: rs766493088
• ExAC: 15:68504100 GAC / G
• gnomAD v2: 15-68504100-GAC-G
• MyVariant Identifiers: chr15:g.68504101_68504102del (hg19) ; chr15:g.68211763_68211764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211764_68211765del , CM000677.2:g.68211764_68211765del	GRCh38
NC_000015.9:g.68504102_68504103del , CM000677.1:g.68504102_68504103del	GRCh37
NC_000015.8:g.66291156_66291157del	NCBI36
NG_008764.2:g.50448_50449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.397_398del MANE Select	ENSP00000249806.5:p.Val133GlnfsTer17
ENST00000562767.2:c.84-14136_84-14135del	ENSP00000456336.1:n.84-14136_84-14135del
ENST00000563917.2:n.239_240del
ENST00000565471.6:c.84-2005_84-2004del	ENSP00000457384.1:n.84-2005_84-2004del
ENST00000635747.1:c.*300_*301del	ENSP00000490627.1:n.*300_*301del
ENST00000636212.1:c.298-23_298-22del	ENSP00000489851.1:n.298-23_298-22del
ENST00000636314.1:c.183-446_183-445del	ENSP00000490295.1:n.183-446_183-445del
ENST00000636674.1:n.1380_1381del
ENST00000636964.1:n.1569_1570del
ENST00000637054.1:c.198+6772_198+6773del	ENSP00000490807.1:n.198+6772_198+6773del
ENST00000637223.1:c.*201-446_*201-445del	ENSP00000490010.1:n.*201-446_*201-445del
ENST00000637329.1:c.366_367del
ENST00000637450.1:c.*51_*52del	ENSP00000490204.1:n.*51_*52del
ENST00000637494.1:c.199-446_199-445del	ENSP00000490057.1:n.199-446_199-445del
ENST00000637667.1:c.298_299del	ENSP00000489843.1:p.Val100GlnfsTer17
ENST00000637823.1:c.224-121_224-120del
ENST00000637888.1:c.198+6772_198+6773del	ENSP00000490546.1:n.198+6772_198+6773del
ENST00000638076.1:c.397_398del	ENSP00000490373.1:p.Val133GlnfsTer17
ENST00000638144.1:n.130-446_130-445del
ENST00000646164.1:c.38+6772_38+6773del
ENST00000249806.9:c.397_398del	ENSP00000249806.5:p.Val133GlnfsTer17
ENST00000538696.5:c.493_494del	ENSP00000445770.1:p.Val165GlnfsTer17
ENST00000562767.1:c.84-14136_84-14135del	ENSP00000456336.1:n.84-14136_84-14135del
ENST00000563917.1:n.178_179del
ENST00000564752.1:c.397_398del	ENSP00000457822.1:p.Val133GlnfsTer17
ENST00000565471.5:c.84-2005_84-2004del	ENSP00000457384.1:n.84-2005_84-2004del
ENST00000566347.5:c.298-446_298-445del	ENSP00000457783.1:n.298-446_298-445del
ENST00000567060.5:c.298-2044_298-2043del	ENSP00000454818.1:n.298-2044_298-2043del
NM_017882.2:c.397_398del	NP_060352.1:p.Val133GlnfsTer17
XR_931861.1:n.500_501del
NM_017882.3:c.397_398del MANE Select	NP_060352.1:p.Val133GlnfsTer17