Canonical Allele Identifier: CA715171494

Gene: CLN6

Linked Data

• dbSNP Id: rs1421962171
• gnomAD v4: 15-68211899-CCT-C
• MyVariant Identifiers: chr15:g.68504238_68504239del (hg19) ; chr15:g.68211900_68211901del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211902_68211903del , CM000677.2:g.68211902_68211903del	GRCh38
NC_000015.9:g.68504240_68504241del , CM000677.1:g.68504240_68504241del	GRCh37
NC_000015.8:g.66291294_66291295del	NCBI36
NG_008764.2:g.50311_50312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-38_298-37del MANE Select	ENSP00000249806.5:n.298-38_298-37del
ENST00000562767.2:c.84-14273_84-14272del	ENSP00000456336.1:n.84-14273_84-14272del
ENST00000563917.2:n.140-38_140-37del
ENST00000565471.6:c.84-2142_84-2141del	ENSP00000457384.1:n.84-2142_84-2141del
ENST00000635747.1:c.*201-38_*201-37del	ENSP00000490627.1:n.*201-38_*201-37del
ENST00000636212.1:c.298-160_298-159del	ENSP00000489851.1:n.298-160_298-159del
ENST00000636314.1:c.183-583_183-582del	ENSP00000490295.1:n.183-583_183-582del
ENST00000636674.1:n.1243_1244del
ENST00000636964.1:n.1432_1433del
ENST00000637054.1:c.198+6635_198+6636del	ENSP00000490807.1:n.198+6635_198+6636del
ENST00000637223.1:c.*201-583_*201-582del	ENSP00000490010.1:n.*201-583_*201-582del
ENST00000637329.1:c.229_230del
ENST00000637450.1:c.183-38_183-37del	ENSP00000490204.1:n.183-38_183-37del
ENST00000637494.1:c.199-583_199-582del	ENSP00000490057.1:n.199-583_199-582del
ENST00000637667.1:c.199-38_199-37del	ENSP00000489843.1:n.199-38_199-37del
ENST00000637823.1:c.224-258_224-257del
ENST00000637888.1:c.198+6635_198+6636del	ENSP00000490546.1:n.198+6635_198+6636del
ENST00000638076.1:c.298-38_298-37del	ENSP00000490373.1:n.298-38_298-37del
ENST00000638144.1:n.130-583_130-582del
ENST00000646164.1:c.38+6635_38+6636del
ENST00000249806.9:c.298-38_298-37del	ENSP00000249806.5:n.298-38_298-37del
ENST00000538696.5:c.394-38_394-37del	ENSP00000445770.1:n.394-38_394-37del
ENST00000562767.1:c.84-14273_84-14272del	ENSP00000456336.1:n.84-14273_84-14272del
ENST00000563917.1:n.79-38_79-37del
ENST00000564752.1:c.298-38_298-37del	ENSP00000457822.1:n.298-38_298-37del
ENST00000565471.5:c.84-2142_84-2141del	ENSP00000457384.1:n.84-2142_84-2141del
ENST00000566347.5:c.298-583_298-582del	ENSP00000457783.1:n.298-583_298-582del
ENST00000567060.5:c.298-2181_298-2180del	ENSP00000454818.1:n.298-2181_298-2180del
NM_017882.2:c.298-38_298-37del	NP_060352.1:n.298-38_298-37del
XR_931861.1:n.401-38_401-37del
NM_017882.3:c.298-38_298-37del MANE Select	NP_060352.1:n.298-38_298-37del