Canonical Allele Identifier: CA2184879916

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209931_68209933delinsGGT , CM000677.2:g.68209931_68209933delinsGGT	GRCh38
NC_000015.9:g.68502269_68502271delinsGGT , CM000677.1:g.68502269_68502271delinsGGT	GRCh37
NC_000015.8:g.66289323_66289325delinsGGT	NCBI36
NG_008764.2:g.52279_52281delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-174_543-172delinsACC MANE Select	ENSP00000249806.5:n.543-174_543-172delinsACC
ENST00000562767.2:c.84-12305_84-12303delinsACC	ENSP00000456336.1:n.84-12305_84-12303delinsACC
ENST00000563917.2:n.385-174_385-172delinsACC
ENST00000565471.6:c.84-174_84-172delinsACC	ENSP00000457384.1:n.84-174_84-172delinsACC
ENST00000635747.1:c.*446-174_*446-172delinsACC	ENSP00000490627.1:n.*446-174_*446-172delinsACC
ENST00000636212.1:c.*213-174_*213-172delinsACC	ENSP00000489851.1:n.*213-174_*213-172delinsACC
ENST00000636314.1:c.239-174_239-172delinsACC	ENSP00000490295.1:n.239-174_239-172delinsACC
ENST00000636674.1:n.1645-174_1645-172delinsACC
ENST00000636964.1:n.2071-174_2071-172delinsACC
ENST00000637054.1:c.198+8603_198+8605delinsACC	ENSP00000490807.1:n.198+8603_198+8605delinsACC
ENST00000637223.1:c.*257-174_*257-172delinsACC	ENSP00000490010.1:n.*257-174_*257-172delinsACC
ENST00000637329.1:c.512-174_512-172delinsACC
ENST00000637450.1:c.*197-174_*197-172delinsACC	ENSP00000490204.1:n.*197-174_*197-172delinsACC
ENST00000637494.1:c.255-174_255-172delinsACC	ENSP00000490057.1:n.255-174_255-172delinsACC
ENST00000637667.1:c.444-174_444-172delinsACC	ENSP00000489843.1:n.444-174_444-172delinsACC
ENST00000637823.1:c.368-174_368-172delinsACC
ENST00000637888.1:c.198+8603_198+8605delinsACC	ENSP00000490546.1:n.198+8603_198+8605delinsACC
ENST00000638076.1:c.*146-174_*146-172delinsACC	ENSP00000490373.1:n.*146-174_*146-172delinsACC
ENST00000638144.1:n.186-174_186-172delinsACC
ENST00000646164.1:c.38+8603_38+8605delinsACC
ENST00000249806.9:c.543-174_543-172delinsACC	ENSP00000249806.5:n.543-174_543-172delinsACC
ENST00000538696.5:c.639-174_639-172delinsACC	ENSP00000445770.1:n.639-174_639-172delinsACC
ENST00000562767.1:c.84-12305_84-12303delinsACC	ENSP00000456336.1:n.84-12305_84-12303delinsACC
ENST00000563917.1:n.443-174_443-172delinsACC
ENST00000564752.1:c.569-174_569-172delinsACC	ENSP00000457822.1:n.569-174_569-172delinsACC
ENST00000565471.5:c.84-174_84-172delinsACC	ENSP00000457384.1:n.84-174_84-172delinsACC
ENST00000566347.5:c.354-174_354-172delinsACC	ENSP00000457783.1:n.354-174_354-172delinsACC
ENST00000567060.5:c.298-213_298-211delinsACC	ENSP00000454818.1:n.298-213_298-211delinsACC
NM_017882.2:c.543-174_543-172delinsACC	NP_060352.1:n.543-174_543-172delinsACC
XR_931861.1:n.765-174_765-172delinsACC
NM_017882.3:c.543-174_543-172delinsACC MANE Select	NP_060352.1:n.543-174_543-172delinsACC