Canonical Allele Identifier: CA2804591343

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211988_68211989del , CM000677.2:g.68211988_68211989del	GRCh38
NC_000015.9:g.68504326_68504327del , CM000677.1:g.68504326_68504327del	GRCh37
NC_000015.8:g.66291380_66291381del	NCBI36
NG_008764.2:g.50223_50224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-126_298-125del MANE Select	ENSP00000249806.5:n.298-126_298-125del
ENST00000562767.2:c.84-14361_84-14360del	ENSP00000456336.1:n.84-14361_84-14360del
ENST00000563917.2:n.140-126_140-125del
ENST00000565471.6:c.84-2230_84-2229del	ENSP00000457384.1:n.84-2230_84-2229del
ENST00000635747.1:c.*201-126_*201-125del	ENSP00000490627.1:n.*201-126_*201-125del
ENST00000636212.1:c.298-248_298-247del	ENSP00000489851.1:n.298-248_298-247del
ENST00000636314.1:c.183-671_183-670del	ENSP00000490295.1:n.183-671_183-670del
ENST00000636674.1:n.1155_1156del
ENST00000636964.1:n.1344_1345del
ENST00000637054.1:c.198+6547_198+6548del	ENSP00000490807.1:n.198+6547_198+6548del
ENST00000637223.1:c.*201-671_*201-670del	ENSP00000490010.1:n.*201-671_*201-670del
ENST00000637329.1:c.209-68_209-67del
ENST00000637450.1:c.183-126_183-125del	ENSP00000490204.1:n.183-126_183-125del
ENST00000637494.1:c.199-671_199-670del	ENSP00000490057.1:n.199-671_199-670del
ENST00000637667.1:c.199-126_199-125del	ENSP00000489843.1:n.199-126_199-125del
ENST00000637823.1:c.224-346_224-345del
ENST00000637888.1:c.198+6547_198+6548del	ENSP00000490546.1:n.198+6547_198+6548del
ENST00000638076.1:c.298-126_298-125del	ENSP00000490373.1:n.298-126_298-125del
ENST00000638144.1:n.130-671_130-670del
ENST00000646164.1:c.38+6547_38+6548del
ENST00000249806.9:c.298-126_298-125del	ENSP00000249806.5:n.298-126_298-125del
ENST00000538696.5:c.394-126_394-125del	ENSP00000445770.1:n.394-126_394-125del
ENST00000562767.1:c.84-14361_84-14360del	ENSP00000456336.1:n.84-14361_84-14360del
ENST00000563917.1:n.79-126_79-125del
ENST00000564752.1:c.298-126_298-125del	ENSP00000457822.1:n.298-126_298-125del
ENST00000565471.5:c.84-2230_84-2229del	ENSP00000457384.1:n.84-2230_84-2229del
ENST00000566347.5:c.298-671_298-670del	ENSP00000457783.1:n.298-671_298-670del
ENST00000567060.5:c.298-2269_298-2268del	ENSP00000454818.1:n.298-2269_298-2268del
NM_017882.2:c.298-126_298-125del	NP_060352.1:n.298-126_298-125del
XR_931861.1:n.401-126_401-125del
NM_017882.3:c.298-126_298-125del MANE Select	NP_060352.1:n.298-126_298-125del