Canonical Allele Identifier: CA2629164562

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209849-TGCCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209851_68209855del , CM000677.2:g.68209851_68209855del	GRCh38
NC_000015.9:g.68502189_68502193del , CM000677.1:g.68502189_68502193del	GRCh37
NC_000015.8:g.66289243_66289247del	NCBI36
NG_008764.2:g.52358_52362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-95_543-91del MANE Select	ENSP00000249806.5:n.543-95_543-91del
ENST00000562767.2:c.84-12226_84-12222del	ENSP00000456336.1:n.84-12226_84-12222del
ENST00000563917.2:n.385-95_385-91del
ENST00000565471.6:c.84-95_84-91del	ENSP00000457384.1:n.84-95_84-91del
ENST00000635747.1:c.*446-95_*446-91del	ENSP00000490627.1:n.*446-95_*446-91del
ENST00000636212.1:c.*213-95_*213-91del	ENSP00000489851.1:n.*213-95_*213-91del
ENST00000636314.1:c.239-95_239-91del	ENSP00000490295.1:n.239-95_239-91del
ENST00000636674.1:n.1645-95_1645-91del
ENST00000636964.1:n.2071-95_2071-91del
ENST00000637054.1:c.198+8682_198+8686del	ENSP00000490807.1:n.198+8682_198+8686del
ENST00000637223.1:c.*257-95_*257-91del	ENSP00000490010.1:n.*257-95_*257-91del
ENST00000637329.1:c.512-95_512-91del
ENST00000637450.1:c.*197-95_*197-91del	ENSP00000490204.1:n.*197-95_*197-91del
ENST00000637494.1:c.255-95_255-91del	ENSP00000490057.1:n.255-95_255-91del
ENST00000637667.1:c.444-95_444-91del	ENSP00000489843.1:n.444-95_444-91del
ENST00000637823.1:c.368-95_368-91del
ENST00000637888.1:c.198+8682_198+8686del	ENSP00000490546.1:n.198+8682_198+8686del
ENST00000638076.1:c.*146-95_*146-91del	ENSP00000490373.1:n.*146-95_*146-91del
ENST00000638144.1:n.186-95_186-91del
ENST00000646164.1:c.38+8682_38+8686del
ENST00000249806.9:c.543-95_543-91del	ENSP00000249806.5:n.543-95_543-91del
ENST00000538696.5:c.639-95_639-91del	ENSP00000445770.1:n.639-95_639-91del
ENST00000562767.1:c.84-12226_84-12222del	ENSP00000456336.1:n.84-12226_84-12222del
ENST00000563917.1:n.443-95_443-91del
ENST00000564752.1:c.569-95_569-91del	ENSP00000457822.1:n.569-95_569-91del
ENST00000565471.5:c.84-95_84-91del	ENSP00000457384.1:n.84-95_84-91del
ENST00000566347.5:c.354-95_354-91del	ENSP00000457783.1:n.354-95_354-91del
ENST00000567060.5:c.298-134_298-130del	ENSP00000454818.1:n.298-134_298-130del
NM_017882.2:c.543-95_543-91del	NP_060352.1:n.543-95_543-91del
XR_931861.1:n.765-95_765-91del
NM_017882.3:c.543-95_543-91del MANE Select	NP_060352.1:n.543-95_543-91del