Canonical Allele Identifier: CA2804591345

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211989_68211990insACA , CM000677.2:g.68211989_68211990insACA	GRCh38
NC_000015.9:g.68504327_68504328insACA , CM000677.1:g.68504327_68504328insACA	GRCh37
NC_000015.8:g.66291381_66291382insACA	NCBI36
NG_008764.2:g.50222_50223insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-127_298-126insTGT MANE Select	ENSP00000249806.5:n.298-127_298-126insTGT
ENST00000562767.2:c.84-14362_84-14361insTGT	ENSP00000456336.1:n.84-14362_84-14361insTGT
ENST00000563917.2:n.140-127_140-126insTGT
ENST00000565471.6:c.84-2231_84-2230insTGT	ENSP00000457384.1:n.84-2231_84-2230insTGT
ENST00000635747.1:c.*201-127_*201-126insTGT	ENSP00000490627.1:n.*201-127_*201-126insTGT
ENST00000636212.1:c.298-249_298-248insTGT	ENSP00000489851.1:n.298-249_298-248insTGT
ENST00000636314.1:c.183-672_183-671insTGT	ENSP00000490295.1:n.183-672_183-671insTGT
ENST00000636674.1:n.1154_1155insTGT
ENST00000636964.1:n.1343_1344insTGT
ENST00000637054.1:c.198+6546_198+6547insTGT	ENSP00000490807.1:n.198+6546_198+6547insTGT
ENST00000637223.1:c.*201-672_*201-671insTGT	ENSP00000490010.1:n.*201-672_*201-671insTGT
ENST00000637329.1:c.209-69_209-68insTGT
ENST00000637450.1:c.183-127_183-126insTGT	ENSP00000490204.1:n.183-127_183-126insTGT
ENST00000637494.1:c.199-672_199-671insTGT	ENSP00000490057.1:n.199-672_199-671insTGT
ENST00000637667.1:c.199-127_199-126insTGT	ENSP00000489843.1:n.199-127_199-126insTGT
ENST00000637823.1:c.224-347_224-346insTGT
ENST00000637888.1:c.198+6546_198+6547insTGT	ENSP00000490546.1:n.198+6546_198+6547insTGT
ENST00000638076.1:c.298-127_298-126insTGT	ENSP00000490373.1:n.298-127_298-126insTGT
ENST00000638144.1:n.130-672_130-671insTGT
ENST00000646164.1:c.38+6546_38+6547insTGT
ENST00000249806.9:c.298-127_298-126insTGT	ENSP00000249806.5:n.298-127_298-126insTGT
ENST00000538696.5:c.394-127_394-126insTGT	ENSP00000445770.1:n.394-127_394-126insTGT
ENST00000562767.1:c.84-14362_84-14361insTGT	ENSP00000456336.1:n.84-14362_84-14361insTGT
ENST00000563917.1:n.79-127_79-126insTGT
ENST00000564752.1:c.298-127_298-126insTGT	ENSP00000457822.1:n.298-127_298-126insTGT
ENST00000565471.5:c.84-2231_84-2230insTGT	ENSP00000457384.1:n.84-2231_84-2230insTGT
ENST00000566347.5:c.298-672_298-671insTGT	ENSP00000457783.1:n.298-672_298-671insTGT
ENST00000567060.5:c.298-2270_298-2269insTGT	ENSP00000454818.1:n.298-2270_298-2269insTGT
NM_017882.2:c.298-127_298-126insTGT	NP_060352.1:n.298-127_298-126insTGT
XR_931861.1:n.401-127_401-126insTGT
NM_017882.3:c.298-127_298-126insTGT MANE Select	NP_060352.1:n.298-127_298-126insTGT