Canonical Allele Identifier: CA2184879925

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209936_68209942delinsGACAGAA , CM000677.2:g.68209936_68209942delinsGACAGAA	GRCh38
NC_000015.9:g.68502274_68502280delinsGACAGAA , CM000677.1:g.68502274_68502280delinsGACAGAA	GRCh37
NC_000015.8:g.66289328_66289334delinsGACAGAA	NCBI36
NG_008764.2:g.52270_52276delinsTTCTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-183_543-177delinsTTCTGTC MANE Select	ENSP00000249806.5:n.543-183_543-177delinsTTCTGTC
ENST00000562767.2:c.84-12314_84-12308delinsTTCTGTC	ENSP00000456336.1:n.84-12314_84-12308delinsTTCTGTC
ENST00000563917.2:n.385-183_385-177delinsTTCTGTC
ENST00000565471.6:c.84-183_84-177delinsTTCTGTC	ENSP00000457384.1:n.84-183_84-177delinsTTCTGTC
ENST00000635747.1:c.*446-183_*446-177delinsTTCTGTC	ENSP00000490627.1:n.*446-183_*446-177delinsTTCTGTC
ENST00000636212.1:c.*213-183_*213-177delinsTTCTGTC	ENSP00000489851.1:n.*213-183_*213-177delinsTTCTGTC
ENST00000636314.1:c.239-183_239-177delinsTTCTGTC	ENSP00000490295.1:n.239-183_239-177delinsTTCTGTC
ENST00000636674.1:n.1645-183_1645-177delinsTTCTGTC
ENST00000636964.1:n.2071-183_2071-177delinsTTCTGTC
ENST00000637054.1:c.198+8594_198+8600delinsTTCTGTC	ENSP00000490807.1:n.198+8594_198+8600delinsTTCTGTC
ENST00000637223.1:c.*257-183_*257-177delinsTTCTGTC	ENSP00000490010.1:n.*257-183_*257-177delinsTTCTGTC
ENST00000637329.1:c.512-183_512-177delinsTTCTGTC
ENST00000637450.1:c.*197-183_*197-177delinsTTCTGTC	ENSP00000490204.1:n.*197-183_*197-177delinsTTCTGTC
ENST00000637494.1:c.255-183_255-177delinsTTCTGTC	ENSP00000490057.1:n.255-183_255-177delinsTTCTGTC
ENST00000637667.1:c.444-183_444-177delinsTTCTGTC	ENSP00000489843.1:n.444-183_444-177delinsTTCTGTC
ENST00000637823.1:c.368-183_368-177delinsTTCTGTC
ENST00000637888.1:c.198+8594_198+8600delinsTTCTGTC	ENSP00000490546.1:n.198+8594_198+8600delinsTTCTGTC
ENST00000638076.1:c.*146-183_*146-177delinsTTCTGTC	ENSP00000490373.1:n.*146-183_*146-177delinsTTCTGTC
ENST00000638144.1:n.186-183_186-177delinsTTCTGTC
ENST00000646164.1:c.38+8594_38+8600delinsTTCTGTC
ENST00000249806.9:c.543-183_543-177delinsTTCTGTC	ENSP00000249806.5:n.543-183_543-177delinsTTCTGTC
ENST00000538696.5:c.639-183_639-177delinsTTCTGTC	ENSP00000445770.1:n.639-183_639-177delinsTTCTGTC
ENST00000562767.1:c.84-12314_84-12308delinsTTCTGTC	ENSP00000456336.1:n.84-12314_84-12308delinsTTCTGTC
ENST00000563917.1:n.443-183_443-177delinsTTCTGTC
ENST00000564752.1:c.569-183_569-177delinsTTCTGTC	ENSP00000457822.1:n.569-183_569-177delinsTTCTGTC
ENST00000565471.5:c.84-183_84-177delinsTTCTGTC	ENSP00000457384.1:n.84-183_84-177delinsTTCTGTC
ENST00000566347.5:c.354-183_354-177delinsTTCTGTC	ENSP00000457783.1:n.354-183_354-177delinsTTCTGTC
ENST00000567060.5:c.298-222_298-216delinsTTCTGTC	ENSP00000454818.1:n.298-222_298-216delinsTTCTGTC
NM_017882.2:c.543-183_543-177delinsTTCTGTC	NP_060352.1:n.543-183_543-177delinsTTCTGTC
XR_931861.1:n.765-183_765-177delinsTTCTGTC
NM_017882.3:c.543-183_543-177delinsTTCTGTC MANE Select	NP_060352.1:n.543-183_543-177delinsTTCTGTC