Canonical Allele Identifier: CA618694766

Gene: CLN6

Linked Data

• dbSNP Id: rs1243530385
• gnomAD v2: 15-68502222-TGA-T
• gnomAD v3: 15-68209884-TGA-T
• gnomAD v4: 15-68209884-TGA-T
• MyVariant Identifiers: chr15:g.68502223_68502224del (hg19) ; chr15:g.68209885_68209886del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209888_68209889del , CM000677.2:g.68209888_68209889del	GRCh38
NC_000015.9:g.68502226_68502227del , CM000677.1:g.68502226_68502227del	GRCh37
NC_000015.8:g.66289280_66289281del	NCBI36
NG_008764.2:g.52326_52327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-127_543-126del MANE Select	ENSP00000249806.5:n.543-127_543-126del
ENST00000562767.2:c.84-12258_84-12257del	ENSP00000456336.1:n.84-12258_84-12257del
ENST00000563917.2:n.385-127_385-126del
ENST00000565471.6:c.84-127_84-126del	ENSP00000457384.1:n.84-127_84-126del
ENST00000635747.1:c.*446-127_*446-126del	ENSP00000490627.1:n.*446-127_*446-126del
ENST00000636212.1:c.*213-127_*213-126del	ENSP00000489851.1:n.*213-127_*213-126del
ENST00000636314.1:c.239-127_239-126del	ENSP00000490295.1:n.239-127_239-126del
ENST00000636674.1:n.1645-127_1645-126del
ENST00000636964.1:n.2071-127_2071-126del
ENST00000637054.1:c.198+8650_198+8651del	ENSP00000490807.1:n.198+8650_198+8651del
ENST00000637223.1:c.*257-127_*257-126del	ENSP00000490010.1:n.*257-127_*257-126del
ENST00000637329.1:c.512-127_512-126del
ENST00000637450.1:c.*197-127_*197-126del	ENSP00000490204.1:n.*197-127_*197-126del
ENST00000637494.1:c.255-127_255-126del	ENSP00000490057.1:n.255-127_255-126del
ENST00000637667.1:c.444-127_444-126del	ENSP00000489843.1:n.444-127_444-126del
ENST00000637823.1:c.368-127_368-126del
ENST00000637888.1:c.198+8650_198+8651del	ENSP00000490546.1:n.198+8650_198+8651del
ENST00000638076.1:c.*146-127_*146-126del	ENSP00000490373.1:n.*146-127_*146-126del
ENST00000638144.1:n.186-127_186-126del
ENST00000646164.1:c.38+8650_38+8651del
ENST00000249806.9:c.543-127_543-126del	ENSP00000249806.5:n.543-127_543-126del
ENST00000538696.5:c.639-127_639-126del	ENSP00000445770.1:n.639-127_639-126del
ENST00000562767.1:c.84-12258_84-12257del	ENSP00000456336.1:n.84-12258_84-12257del
ENST00000563917.1:n.443-127_443-126del
ENST00000564752.1:c.569-127_569-126del	ENSP00000457822.1:n.569-127_569-126del
ENST00000565471.5:c.84-127_84-126del	ENSP00000457384.1:n.84-127_84-126del
ENST00000566347.5:c.354-127_354-126del	ENSP00000457783.1:n.354-127_354-126del
ENST00000567060.5:c.298-166_298-165del	ENSP00000454818.1:n.298-166_298-165del
NM_017882.2:c.543-127_543-126del	NP_060352.1:n.543-127_543-126del
XR_931861.1:n.765-127_765-126del
NM_017882.3:c.543-127_543-126del MANE Select	NP_060352.1:n.543-127_543-126del