Canonical Allele Identifier: CA2629165230

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211995-C-CTGCTAAAGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211995_68211996insTGCTAAAGGGA , CM000677.2:g.68211995_68211996insTGCTAAAGGGA	GRCh38
NC_000015.9:g.68504333_68504334insTGCTAAAGGGA , CM000677.1:g.68504333_68504334insTGCTAAAGGGA	GRCh37
NC_000015.8:g.66291387_66291388insTGCTAAAGGGA	NCBI36
NG_008764.2:g.50216_50217insTCCCTTTAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-133_298-132insTCCCTTTAGCA MANE Select	ENSP00000249806.5:n.298-133_298-132insTCCCTTTAGCA
ENST00000562767.2:c.84-14368_84-14367insTCCCTTTAGCA	ENSP00000456336.1:n.84-14368_84-14367insTCCCTTTAGCA
ENST00000563917.2:n.140-133_140-132insTCCCTTTAGCA
ENST00000565471.6:c.84-2237_84-2236insTCCCTTTAGCA	ENSP00000457384.1:n.84-2237_84-2236insTCCCTTTAGCA
ENST00000635747.1:c.*201-133_*201-132insTCCCTTTAGCA	ENSP00000490627.1:n.*201-133_*201-132insTCCCTTTAGCA
ENST00000636212.1:c.298-255_298-254insTCCCTTTAGCA	ENSP00000489851.1:n.298-255_298-254insTCCCTTTAGCA
ENST00000636314.1:c.183-678_183-677insTCCCTTTAGCA	ENSP00000490295.1:n.183-678_183-677insTCCCTTTAGCA
ENST00000636674.1:n.1148_1149insTCCCTTTAGCA
ENST00000636964.1:n.1337_1338insTCCCTTTAGCA
ENST00000637054.1:c.198+6540_198+6541insTCCCTTTAGCA	ENSP00000490807.1:n.198+6540_198+6541insTCCCTTTAGCA
ENST00000637223.1:c.*201-678_*201-677insTCCCTTTAGCA	ENSP00000490010.1:n.*201-678_*201-677insTCCCTTTAGCA
ENST00000637329.1:c.209-75_209-74insTCCCTTTAGCA
ENST00000637450.1:c.183-133_183-132insTCCCTTTAGCA	ENSP00000490204.1:n.183-133_183-132insTCCCTTTAGCA
ENST00000637494.1:c.199-678_199-677insTCCCTTTAGCA	ENSP00000490057.1:n.199-678_199-677insTCCCTTTAGCA
ENST00000637667.1:c.199-133_199-132insTCCCTTTAGCA	ENSP00000489843.1:n.199-133_199-132insTCCCTTTAGCA
ENST00000637823.1:c.224-353_224-352insTCCCTTTAGCA
ENST00000637888.1:c.198+6540_198+6541insTCCCTTTAGCA	ENSP00000490546.1:n.198+6540_198+6541insTCCCTTTAGCA
ENST00000638076.1:c.298-133_298-132insTCCCTTTAGCA	ENSP00000490373.1:n.298-133_298-132insTCCCTTTAGCA
ENST00000638144.1:n.130-678_130-677insTCCCTTTAGCA
ENST00000646164.1:c.38+6540_38+6541insTCCCTTTAGCA
ENST00000249806.9:c.298-133_298-132insTCCCTTTAGCA	ENSP00000249806.5:n.298-133_298-132insTCCCTTTAGCA
ENST00000538696.5:c.394-133_394-132insTCCCTTTAGCA	ENSP00000445770.1:n.394-133_394-132insTCCCTTTAGCA
ENST00000562767.1:c.84-14368_84-14367insTCCCTTTAGCA	ENSP00000456336.1:n.84-14368_84-14367insTCCCTTTAGCA
ENST00000563917.1:n.79-133_79-132insTCCCTTTAGCA
ENST00000564752.1:c.298-133_298-132insTCCCTTTAGCA	ENSP00000457822.1:n.298-133_298-132insTCCCTTTAGCA
ENST00000565471.5:c.84-2237_84-2236insTCCCTTTAGCA	ENSP00000457384.1:n.84-2237_84-2236insTCCCTTTAGCA
ENST00000566347.5:c.298-678_298-677insTCCCTTTAGCA	ENSP00000457783.1:n.298-678_298-677insTCCCTTTAGCA
ENST00000567060.5:c.298-2276_298-2275insTCCCTTTAGCA	ENSP00000454818.1:n.298-2276_298-2275insTCCCTTTAGCA
NM_017882.2:c.298-133_298-132insTCCCTTTAGCA	NP_060352.1:n.298-133_298-132insTCCCTTTAGCA
XR_931861.1:n.401-133_401-132insTCCCTTTAGCA
NM_017882.3:c.298-133_298-132insTCCCTTTAGCA MANE Select	NP_060352.1:n.298-133_298-132insTCCCTTTAGCA