Canonical Allele Identifier: CA2804592576

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209876_68209877insC , CM000677.2:g.68209876_68209877insC	GRCh38
NC_000015.9:g.68502214_68502215insC , CM000677.1:g.68502214_68502215insC	GRCh37
NC_000015.8:g.66289268_66289269insC	NCBI36
NG_008764.2:g.52335_52336insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-118_543-117insG MANE Select	ENSP00000249806.5:n.543-118_543-117insG
ENST00000562767.2:c.84-12249_84-12248insG	ENSP00000456336.1:n.84-12249_84-12248insG
ENST00000563917.2:n.385-118_385-117insG
ENST00000565471.6:c.84-118_84-117insG	ENSP00000457384.1:n.84-118_84-117insG
ENST00000635747.1:c.*446-118_*446-117insG	ENSP00000490627.1:n.*446-118_*446-117insG
ENST00000636212.1:c.*213-118_*213-117insG	ENSP00000489851.1:n.*213-118_*213-117insG
ENST00000636314.1:c.239-118_239-117insG	ENSP00000490295.1:n.239-118_239-117insG
ENST00000636674.1:n.1645-118_1645-117insG
ENST00000636964.1:n.2071-118_2071-117insG
ENST00000637054.1:c.198+8659_198+8660insG	ENSP00000490807.1:n.198+8659_198+8660insG
ENST00000637223.1:c.*257-118_*257-117insG	ENSP00000490010.1:n.*257-118_*257-117insG
ENST00000637329.1:c.512-118_512-117insG
ENST00000637450.1:c.*197-118_*197-117insG	ENSP00000490204.1:n.*197-118_*197-117insG
ENST00000637494.1:c.255-118_255-117insG	ENSP00000490057.1:n.255-118_255-117insG
ENST00000637667.1:c.444-118_444-117insG	ENSP00000489843.1:n.444-118_444-117insG
ENST00000637823.1:c.368-118_368-117insG
ENST00000637888.1:c.198+8659_198+8660insG	ENSP00000490546.1:n.198+8659_198+8660insG
ENST00000638076.1:c.*146-118_*146-117insG	ENSP00000490373.1:n.*146-118_*146-117insG
ENST00000638144.1:n.186-118_186-117insG
ENST00000646164.1:c.38+8659_38+8660insG
ENST00000249806.9:c.543-118_543-117insG	ENSP00000249806.5:n.543-118_543-117insG
ENST00000538696.5:c.639-118_639-117insG	ENSP00000445770.1:n.639-118_639-117insG
ENST00000562767.1:c.84-12249_84-12248insG	ENSP00000456336.1:n.84-12249_84-12248insG
ENST00000563917.1:n.443-118_443-117insG
ENST00000564752.1:c.569-118_569-117insG	ENSP00000457822.1:n.569-118_569-117insG
ENST00000565471.5:c.84-118_84-117insG	ENSP00000457384.1:n.84-118_84-117insG
ENST00000566347.5:c.354-118_354-117insG	ENSP00000457783.1:n.354-118_354-117insG
ENST00000567060.5:c.298-157_298-156insG	ENSP00000454818.1:n.298-157_298-156insG
NM_017882.2:c.543-118_543-117insG	NP_060352.1:n.543-118_543-117insG
XR_931861.1:n.765-118_765-117insG
NM_017882.3:c.543-118_543-117insG MANE Select	NP_060352.1:n.543-118_543-117insG