Canonical Allele Identifier: CA715171516

Gene: CLN6

Linked Data

• dbSNP Id: rs1225412655
• gnomAD v4: 15-68211923-TC-T
• MyVariant Identifiers: chr15:g.68504262del (hg19) ; chr15:g.68211924del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211924del , CM000677.2:g.68211924del	GRCh38
NC_000015.9:g.68504262del , CM000677.1:g.68504262del	GRCh37
NC_000015.8:g.66291316del	NCBI36
NG_008764.2:g.50288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-61del MANE Select	ENSP00000249806.5:n.298-61del
ENST00000562767.2:c.84-14296del	ENSP00000456336.1:n.84-14296del
ENST00000563917.2:n.140-61del
ENST00000565471.6:c.84-2165del	ENSP00000457384.1:n.84-2165del
ENST00000635747.1:c.*201-61del	ENSP00000490627.1:n.*201-61del
ENST00000636212.1:c.298-183del	ENSP00000489851.1:n.298-183del
ENST00000636314.1:c.183-606del	ENSP00000490295.1:n.183-606del
ENST00000636674.1:n.1220del
ENST00000636964.1:n.1409del
ENST00000637054.1:c.198+6612del	ENSP00000490807.1:n.198+6612del
ENST00000637223.1:c.*201-606del	ENSP00000490010.1:n.*201-606del
ENST00000637329.1:c.209-3del
ENST00000637450.1:c.183-61del	ENSP00000490204.1:n.183-61del
ENST00000637494.1:c.199-606del	ENSP00000490057.1:n.199-606del
ENST00000637667.1:c.199-61del	ENSP00000489843.1:n.199-61del
ENST00000637823.1:c.224-281del
ENST00000637888.1:c.198+6612del	ENSP00000490546.1:n.198+6612del
ENST00000638076.1:c.298-61del	ENSP00000490373.1:n.298-61del
ENST00000638144.1:n.130-606del
ENST00000646164.1:c.38+6612del
ENST00000249806.9:c.298-61del	ENSP00000249806.5:n.298-61del
ENST00000538696.5:c.394-61del	ENSP00000445770.1:n.394-61del
ENST00000562767.1:c.84-14296del	ENSP00000456336.1:n.84-14296del
ENST00000563917.1:n.79-61del
ENST00000564752.1:c.298-61del	ENSP00000457822.1:n.298-61del
ENST00000565471.5:c.84-2165del	ENSP00000457384.1:n.84-2165del
ENST00000566347.5:c.298-606del	ENSP00000457783.1:n.298-606del
ENST00000567060.5:c.298-2204del	ENSP00000454818.1:n.298-2204del
NM_017882.2:c.298-61del	NP_060352.1:n.298-61del
XR_931861.1:n.401-61del
NM_017882.3:c.298-61del MANE Select	NP_060352.1:n.298-61del