Canonical Allele Identifier: CA2804592657

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209938_68209939insT , CM000677.2:g.68209938_68209939insT	GRCh38
NC_000015.9:g.68502276_68502277insT , CM000677.1:g.68502276_68502277insT	GRCh37
NC_000015.8:g.66289330_66289331insT	NCBI36
NG_008764.2:g.52273_52274insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-180_543-179insA MANE Select	ENSP00000249806.5:n.543-180_543-179insA
ENST00000562767.2:c.84-12311_84-12310insA	ENSP00000456336.1:n.84-12311_84-12310insA
ENST00000563917.2:n.385-180_385-179insA
ENST00000565471.6:c.84-180_84-179insA	ENSP00000457384.1:n.84-180_84-179insA
ENST00000635747.1:c.*446-180_*446-179insA	ENSP00000490627.1:n.*446-180_*446-179insA
ENST00000636212.1:c.*213-180_*213-179insA	ENSP00000489851.1:n.*213-180_*213-179insA
ENST00000636314.1:c.239-180_239-179insA	ENSP00000490295.1:n.239-180_239-179insA
ENST00000636674.1:n.1645-180_1645-179insA
ENST00000636964.1:n.2071-180_2071-179insA
ENST00000637054.1:c.198+8597_198+8598insA	ENSP00000490807.1:n.198+8597_198+8598insA
ENST00000637223.1:c.*257-180_*257-179insA	ENSP00000490010.1:n.*257-180_*257-179insA
ENST00000637329.1:c.512-180_512-179insA
ENST00000637450.1:c.*197-180_*197-179insA	ENSP00000490204.1:n.*197-180_*197-179insA
ENST00000637494.1:c.255-180_255-179insA	ENSP00000490057.1:n.255-180_255-179insA
ENST00000637667.1:c.444-180_444-179insA	ENSP00000489843.1:n.444-180_444-179insA
ENST00000637823.1:c.368-180_368-179insA
ENST00000637888.1:c.198+8597_198+8598insA	ENSP00000490546.1:n.198+8597_198+8598insA
ENST00000638076.1:c.*146-180_*146-179insA	ENSP00000490373.1:n.*146-180_*146-179insA
ENST00000638144.1:n.186-180_186-179insA
ENST00000646164.1:c.38+8597_38+8598insA
ENST00000249806.9:c.543-180_543-179insA	ENSP00000249806.5:n.543-180_543-179insA
ENST00000538696.5:c.639-180_639-179insA	ENSP00000445770.1:n.639-180_639-179insA
ENST00000562767.1:c.84-12311_84-12310insA	ENSP00000456336.1:n.84-12311_84-12310insA
ENST00000563917.1:n.443-180_443-179insA
ENST00000564752.1:c.569-180_569-179insA	ENSP00000457822.1:n.569-180_569-179insA
ENST00000565471.5:c.84-180_84-179insA	ENSP00000457384.1:n.84-180_84-179insA
ENST00000566347.5:c.354-180_354-179insA	ENSP00000457783.1:n.354-180_354-179insA
ENST00000567060.5:c.298-219_298-218insA	ENSP00000454818.1:n.298-219_298-218insA
NM_017882.2:c.543-180_543-179insA	NP_060352.1:n.543-180_543-179insA
XR_931861.1:n.765-180_765-179insA
NM_017882.3:c.543-180_543-179insA MANE Select	NP_060352.1:n.543-180_543-179insA