Canonical Allele Identifier: CA2595319331

Gene: CLN6

Linked Data

• dbSNP Id: rs2141137429
• gnomAD v3: 15-68209856-TCA-T
• gnomAD v4: 15-68209856-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209859_68209860del , CM000677.2:g.68209859_68209860del	GRCh38
NC_000015.9:g.68502197_68502198del , CM000677.1:g.68502197_68502198del	GRCh37
NC_000015.8:g.66289251_66289252del	NCBI36
NG_008764.2:g.52354_52355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-99_543-98del MANE Select	ENSP00000249806.5:n.543-99_543-98del
ENST00000562767.2:c.84-12230_84-12229del	ENSP00000456336.1:n.84-12230_84-12229del
ENST00000563917.2:n.385-99_385-98del
ENST00000565471.6:c.84-99_84-98del	ENSP00000457384.1:n.84-99_84-98del
ENST00000635747.1:c.*446-99_*446-98del	ENSP00000490627.1:n.*446-99_*446-98del
ENST00000636212.1:c.*213-99_*213-98del	ENSP00000489851.1:n.*213-99_*213-98del
ENST00000636314.1:c.239-99_239-98del	ENSP00000490295.1:n.239-99_239-98del
ENST00000636674.1:n.1645-99_1645-98del
ENST00000636964.1:n.2071-99_2071-98del
ENST00000637054.1:c.198+8678_198+8679del	ENSP00000490807.1:n.198+8678_198+8679del
ENST00000637223.1:c.*257-99_*257-98del	ENSP00000490010.1:n.*257-99_*257-98del
ENST00000637329.1:c.512-99_512-98del
ENST00000637450.1:c.*197-99_*197-98del	ENSP00000490204.1:n.*197-99_*197-98del
ENST00000637494.1:c.255-99_255-98del	ENSP00000490057.1:n.255-99_255-98del
ENST00000637667.1:c.444-99_444-98del	ENSP00000489843.1:n.444-99_444-98del
ENST00000637823.1:c.368-99_368-98del
ENST00000637888.1:c.198+8678_198+8679del	ENSP00000490546.1:n.198+8678_198+8679del
ENST00000638076.1:c.*146-99_*146-98del	ENSP00000490373.1:n.*146-99_*146-98del
ENST00000638144.1:n.186-99_186-98del
ENST00000646164.1:c.38+8678_38+8679del
ENST00000249806.9:c.543-99_543-98del	ENSP00000249806.5:n.543-99_543-98del
ENST00000538696.5:c.639-99_639-98del	ENSP00000445770.1:n.639-99_639-98del
ENST00000562767.1:c.84-12230_84-12229del	ENSP00000456336.1:n.84-12230_84-12229del
ENST00000563917.1:n.443-99_443-98del
ENST00000564752.1:c.569-99_569-98del	ENSP00000457822.1:n.569-99_569-98del
ENST00000565471.5:c.84-99_84-98del	ENSP00000457384.1:n.84-99_84-98del
ENST00000566347.5:c.354-99_354-98del	ENSP00000457783.1:n.354-99_354-98del
ENST00000567060.5:c.298-138_298-137del	ENSP00000454818.1:n.298-138_298-137del
NM_017882.2:c.543-99_543-98del	NP_060352.1:n.543-99_543-98del
XR_931861.1:n.765-99_765-98del
NM_017882.3:c.543-99_543-98del MANE Select	NP_060352.1:n.543-99_543-98del