Canonical Allele Identifier: CA7630635

Gene: CLN6

Linked Data

• dbSNP Id: rs767729558
• ExAC: 15:68504234 CCA / C
• gnomAD v2: 15-68504234-CCA-C
• gnomAD v3: 15-68211896-CCA-C
• gnomAD v4: 15-68211896-CCA-C
• MyVariant Identifiers: chr15:g.68504235_68504236del (hg19) ; chr15:g.68211897_68211898del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211898_68211899del , CM000677.2:g.68211898_68211899del	GRCh38
NC_000015.9:g.68504236_68504237del , CM000677.1:g.68504236_68504237del	GRCh37
NC_000015.8:g.66291290_66291291del	NCBI36
NG_008764.2:g.50314_50315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-35_298-34del MANE Select	ENSP00000249806.5:n.298-35_298-34del
ENST00000562767.2:c.84-14270_84-14269del	ENSP00000456336.1:n.84-14270_84-14269del
ENST00000563917.2:n.140-35_140-34del
ENST00000565471.6:c.84-2139_84-2138del	ENSP00000457384.1:n.84-2139_84-2138del
ENST00000635747.1:c.*201-35_*201-34del	ENSP00000490627.1:n.*201-35_*201-34del
ENST00000636212.1:c.298-157_298-156del	ENSP00000489851.1:n.298-157_298-156del
ENST00000636314.1:c.183-580_183-579del	ENSP00000490295.1:n.183-580_183-579del
ENST00000636674.1:n.1246_1247del
ENST00000636964.1:n.1435_1436del
ENST00000637054.1:c.198+6638_198+6639del	ENSP00000490807.1:n.198+6638_198+6639del
ENST00000637223.1:c.*201-580_*201-579del	ENSP00000490010.1:n.*201-580_*201-579del
ENST00000637329.1:c.232_233del
ENST00000637450.1:c.183-35_183-34del	ENSP00000490204.1:n.183-35_183-34del
ENST00000637494.1:c.199-580_199-579del	ENSP00000490057.1:n.199-580_199-579del
ENST00000637667.1:c.199-35_199-34del	ENSP00000489843.1:n.199-35_199-34del
ENST00000637823.1:c.224-255_224-254del
ENST00000637888.1:c.198+6638_198+6639del	ENSP00000490546.1:n.198+6638_198+6639del
ENST00000638076.1:c.298-35_298-34del	ENSP00000490373.1:n.298-35_298-34del
ENST00000638144.1:n.130-580_130-579del
ENST00000646164.1:c.38+6638_38+6639del
ENST00000249806.9:c.298-35_298-34del	ENSP00000249806.5:n.298-35_298-34del
ENST00000538696.5:c.394-35_394-34del	ENSP00000445770.1:n.394-35_394-34del
ENST00000562767.1:c.84-14270_84-14269del	ENSP00000456336.1:n.84-14270_84-14269del
ENST00000563917.1:n.79-35_79-34del
ENST00000564752.1:c.298-35_298-34del	ENSP00000457822.1:n.298-35_298-34del
ENST00000565471.5:c.84-2139_84-2138del	ENSP00000457384.1:n.84-2139_84-2138del
ENST00000566347.5:c.298-580_298-579del	ENSP00000457783.1:n.298-580_298-579del
ENST00000567060.5:c.298-2178_298-2177del	ENSP00000454818.1:n.298-2178_298-2177del
NM_017882.2:c.298-35_298-34del	NP_060352.1:n.298-35_298-34del
XR_931861.1:n.401-35_401-34del
NM_017882.3:c.298-35_298-34del MANE Select	NP_060352.1:n.298-35_298-34del