Canonical Allele Identifier: CA2804592606

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209890_68209891insACA , CM000677.2:g.68209890_68209891insACA	GRCh38
NC_000015.9:g.68502228_68502229insACA , CM000677.1:g.68502228_68502229insACA	GRCh37
NC_000015.8:g.66289282_66289283insACA	NCBI36
NG_008764.2:g.52321_52322insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-132_543-131insTGT MANE Select	ENSP00000249806.5:n.543-132_543-131insTGT
ENST00000562767.2:c.84-12263_84-12262insTGT	ENSP00000456336.1:n.84-12263_84-12262insTGT
ENST00000563917.2:n.385-132_385-131insTGT
ENST00000565471.6:c.84-132_84-131insTGT	ENSP00000457384.1:n.84-132_84-131insTGT
ENST00000635747.1:c.*446-132_*446-131insTGT	ENSP00000490627.1:n.*446-132_*446-131insTGT
ENST00000636212.1:c.*213-132_*213-131insTGT	ENSP00000489851.1:n.*213-132_*213-131insTGT
ENST00000636314.1:c.239-132_239-131insTGT	ENSP00000490295.1:n.239-132_239-131insTGT
ENST00000636674.1:n.1645-132_1645-131insTGT
ENST00000636964.1:n.2071-132_2071-131insTGT
ENST00000637054.1:c.198+8645_198+8646insTGT	ENSP00000490807.1:n.198+8645_198+8646insTGT
ENST00000637223.1:c.*257-132_*257-131insTGT	ENSP00000490010.1:n.*257-132_*257-131insTGT
ENST00000637329.1:c.512-132_512-131insTGT
ENST00000637450.1:c.*197-132_*197-131insTGT	ENSP00000490204.1:n.*197-132_*197-131insTGT
ENST00000637494.1:c.255-132_255-131insTGT	ENSP00000490057.1:n.255-132_255-131insTGT
ENST00000637667.1:c.444-132_444-131insTGT	ENSP00000489843.1:n.444-132_444-131insTGT
ENST00000637823.1:c.368-132_368-131insTGT
ENST00000637888.1:c.198+8645_198+8646insTGT	ENSP00000490546.1:n.198+8645_198+8646insTGT
ENST00000638076.1:c.*146-132_*146-131insTGT	ENSP00000490373.1:n.*146-132_*146-131insTGT
ENST00000638144.1:n.186-132_186-131insTGT
ENST00000646164.1:c.38+8645_38+8646insTGT
ENST00000249806.9:c.543-132_543-131insTGT	ENSP00000249806.5:n.543-132_543-131insTGT
ENST00000538696.5:c.639-132_639-131insTGT	ENSP00000445770.1:n.639-132_639-131insTGT
ENST00000562767.1:c.84-12263_84-12262insTGT	ENSP00000456336.1:n.84-12263_84-12262insTGT
ENST00000563917.1:n.443-132_443-131insTGT
ENST00000564752.1:c.569-132_569-131insTGT	ENSP00000457822.1:n.569-132_569-131insTGT
ENST00000565471.5:c.84-132_84-131insTGT	ENSP00000457384.1:n.84-132_84-131insTGT
ENST00000566347.5:c.354-132_354-131insTGT	ENSP00000457783.1:n.354-132_354-131insTGT
ENST00000567060.5:c.298-171_298-170insTGT	ENSP00000454818.1:n.298-171_298-170insTGT
NM_017882.2:c.543-132_543-131insTGT	NP_060352.1:n.543-132_543-131insTGT
XR_931861.1:n.765-132_765-131insTGT
NM_017882.3:c.543-132_543-131insTGT MANE Select	NP_060352.1:n.543-132_543-131insTGT