Canonical Allele Identifier: CA2629164499

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209811-CACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209814_68209816del , CM000677.2:g.68209814_68209816del	GRCh38
NC_000015.9:g.68502152_68502154del , CM000677.1:g.68502152_68502154del	GRCh37
NC_000015.8:g.66289206_66289208del	NCBI36
NG_008764.2:g.52398_52400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-55_543-53del MANE Select	ENSP00000249806.5:n.543-55_543-53del
ENST00000562767.2:c.84-12186_84-12184del	ENSP00000456336.1:n.84-12186_84-12184del
ENST00000563917.2:n.385-55_385-53del
ENST00000565471.6:c.84-55_84-53del	ENSP00000457384.1:n.84-55_84-53del
ENST00000635747.1:c.*446-55_*446-53del	ENSP00000490627.1:n.*446-55_*446-53del
ENST00000636212.1:c.*213-55_*213-53del	ENSP00000489851.1:n.*213-55_*213-53del
ENST00000636314.1:c.239-55_239-53del	ENSP00000490295.1:n.239-55_239-53del
ENST00000636674.1:n.1645-55_1645-53del
ENST00000636964.1:n.2071-55_2071-53del
ENST00000637054.1:c.198+8722_198+8724del	ENSP00000490807.1:n.198+8722_198+8724del
ENST00000637223.1:c.*257-55_*257-53del	ENSP00000490010.1:n.*257-55_*257-53del
ENST00000637329.1:c.512-55_512-53del
ENST00000637450.1:c.*197-55_*197-53del	ENSP00000490204.1:n.*197-55_*197-53del
ENST00000637494.1:c.255-55_255-53del	ENSP00000490057.1:n.255-55_255-53del
ENST00000637667.1:c.444-55_444-53del	ENSP00000489843.1:n.444-55_444-53del
ENST00000637823.1:c.368-55_368-53del
ENST00000637888.1:c.198+8722_198+8724del	ENSP00000490546.1:n.198+8722_198+8724del
ENST00000638076.1:c.*146-55_*146-53del	ENSP00000490373.1:n.*146-55_*146-53del
ENST00000638144.1:n.186-55_186-53del
ENST00000646164.1:c.38+8722_38+8724del
ENST00000249806.9:c.543-55_543-53del	ENSP00000249806.5:n.543-55_543-53del
ENST00000538696.5:c.639-55_639-53del	ENSP00000445770.1:n.639-55_639-53del
ENST00000562767.1:c.84-12186_84-12184del	ENSP00000456336.1:n.84-12186_84-12184del
ENST00000563917.1:n.443-55_443-53del
ENST00000564752.1:c.569-55_569-53del	ENSP00000457822.1:n.569-55_569-53del
ENST00000565471.5:c.84-55_84-53del	ENSP00000457384.1:n.84-55_84-53del
ENST00000566347.5:c.354-55_354-53del	ENSP00000457783.1:n.354-55_354-53del
ENST00000567060.5:c.298-94_298-92del	ENSP00000454818.1:n.298-94_298-92del
NM_017882.2:c.543-55_543-53del	NP_060352.1:n.543-55_543-53del
XR_931861.1:n.765-55_765-53del
NM_017882.3:c.543-55_543-53del MANE Select	NP_060352.1:n.543-55_543-53del