Canonical Allele Identifier: CA2804591346

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211990_68211991del , CM000677.2:g.68211990_68211991del	GRCh38
NC_000015.9:g.68504328_68504329del , CM000677.1:g.68504328_68504329del	GRCh37
NC_000015.8:g.66291382_66291383del	NCBI36
NG_008764.2:g.50221_50222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-128_298-127del MANE Select	ENSP00000249806.5:n.298-128_298-127del
ENST00000562767.2:c.84-14363_84-14362del	ENSP00000456336.1:n.84-14363_84-14362del
ENST00000563917.2:n.140-128_140-127del
ENST00000565471.6:c.84-2232_84-2231del	ENSP00000457384.1:n.84-2232_84-2231del
ENST00000635747.1:c.*201-128_*201-127del	ENSP00000490627.1:n.*201-128_*201-127del
ENST00000636212.1:c.298-250_298-249del	ENSP00000489851.1:n.298-250_298-249del
ENST00000636314.1:c.183-673_183-672del	ENSP00000490295.1:n.183-673_183-672del
ENST00000636674.1:n.1153_1154del
ENST00000636964.1:n.1342_1343del
ENST00000637054.1:c.198+6545_198+6546del	ENSP00000490807.1:n.198+6545_198+6546del
ENST00000637223.1:c.*201-673_*201-672del	ENSP00000490010.1:n.*201-673_*201-672del
ENST00000637329.1:c.209-70_209-69del
ENST00000637450.1:c.183-128_183-127del	ENSP00000490204.1:n.183-128_183-127del
ENST00000637494.1:c.199-673_199-672del	ENSP00000490057.1:n.199-673_199-672del
ENST00000637667.1:c.199-128_199-127del	ENSP00000489843.1:n.199-128_199-127del
ENST00000637823.1:c.224-348_224-347del
ENST00000637888.1:c.198+6545_198+6546del	ENSP00000490546.1:n.198+6545_198+6546del
ENST00000638076.1:c.298-128_298-127del	ENSP00000490373.1:n.298-128_298-127del
ENST00000638144.1:n.130-673_130-672del
ENST00000646164.1:c.38+6545_38+6546del
ENST00000249806.9:c.298-128_298-127del	ENSP00000249806.5:n.298-128_298-127del
ENST00000538696.5:c.394-128_394-127del	ENSP00000445770.1:n.394-128_394-127del
ENST00000562767.1:c.84-14363_84-14362del	ENSP00000456336.1:n.84-14363_84-14362del
ENST00000563917.1:n.79-128_79-127del
ENST00000564752.1:c.298-128_298-127del	ENSP00000457822.1:n.298-128_298-127del
ENST00000565471.5:c.84-2232_84-2231del	ENSP00000457384.1:n.84-2232_84-2231del
ENST00000566347.5:c.298-673_298-672del	ENSP00000457783.1:n.298-673_298-672del
ENST00000567060.5:c.298-2271_298-2270del	ENSP00000454818.1:n.298-2271_298-2270del
NM_017882.2:c.298-128_298-127del	NP_060352.1:n.298-128_298-127del
XR_931861.1:n.401-128_401-127del
NM_017882.3:c.298-128_298-127del MANE Select	NP_060352.1:n.298-128_298-127del