Canonical Allele Identifier: CA2629165192

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211971-ATGTCACTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211972_68211980del , CM000677.2:g.68211972_68211980del	GRCh38
NC_000015.9:g.68504310_68504318del , CM000677.1:g.68504310_68504318del	GRCh37
NC_000015.8:g.66291364_66291372del	NCBI36
NG_008764.2:g.50232_50240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-117_298-109del MANE Select	ENSP00000249806.5:n.298-117_298-109del
ENST00000562767.2:c.84-14352_84-14344del	ENSP00000456336.1:n.84-14352_84-14344del
ENST00000563917.2:n.140-117_140-109del
ENST00000565471.6:c.84-2221_84-2213del	ENSP00000457384.1:n.84-2221_84-2213del
ENST00000635747.1:c.*201-117_*201-109del	ENSP00000490627.1:n.*201-117_*201-109del
ENST00000636212.1:c.298-239_298-231del	ENSP00000489851.1:n.298-239_298-231del
ENST00000636314.1:c.183-662_183-654del	ENSP00000490295.1:n.183-662_183-654del
ENST00000636674.1:n.1164_1172del
ENST00000636964.1:n.1353_1361del
ENST00000637054.1:c.198+6556_198+6564del	ENSP00000490807.1:n.198+6556_198+6564del
ENST00000637223.1:c.*201-662_*201-654del	ENSP00000490010.1:n.*201-662_*201-654del
ENST00000637329.1:c.209-59_209-51del
ENST00000637450.1:c.183-117_183-109del	ENSP00000490204.1:n.183-117_183-109del
ENST00000637494.1:c.199-662_199-654del	ENSP00000490057.1:n.199-662_199-654del
ENST00000637667.1:c.199-117_199-109del	ENSP00000489843.1:n.199-117_199-109del
ENST00000637823.1:c.224-337_224-329del
ENST00000637888.1:c.198+6556_198+6564del	ENSP00000490546.1:n.198+6556_198+6564del
ENST00000638076.1:c.298-117_298-109del	ENSP00000490373.1:n.298-117_298-109del
ENST00000638144.1:n.130-662_130-654del
ENST00000646164.1:c.38+6556_38+6564del
ENST00000249806.9:c.298-117_298-109del	ENSP00000249806.5:n.298-117_298-109del
ENST00000538696.5:c.394-117_394-109del	ENSP00000445770.1:n.394-117_394-109del
ENST00000562767.1:c.84-14352_84-14344del	ENSP00000456336.1:n.84-14352_84-14344del
ENST00000563917.1:n.79-117_79-109del
ENST00000564752.1:c.298-117_298-109del	ENSP00000457822.1:n.298-117_298-109del
ENST00000565471.5:c.84-2221_84-2213del	ENSP00000457384.1:n.84-2221_84-2213del
ENST00000566347.5:c.298-662_298-654del	ENSP00000457783.1:n.298-662_298-654del
ENST00000567060.5:c.298-2260_298-2252del	ENSP00000454818.1:n.298-2260_298-2252del
NM_017882.2:c.298-117_298-109del	NP_060352.1:n.298-117_298-109del
XR_931861.1:n.401-117_401-109del
NM_017882.3:c.298-117_298-109del MANE Select	NP_060352.1:n.298-117_298-109del