Canonical Allele Identifier: CA715166835

Gene: CLN6

Linked Data

• dbSNP Id: rs1214087259
• gnomAD v3: 15-68207608-AT-A
• gnomAD v4: 15-68207608-AT-A
• MyVariant Identifiers: chr15:g.68499947del (hg19) ; chr15:g.68207609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207609del , CM000677.2:g.68207609del	GRCh38
NC_000015.9:g.68499947del , CM000677.1:g.68499947del	GRCh37
NC_000015.8:g.66287001del	NCBI36
NG_008764.2:g.54603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*531del MANE Select	ENSP00000249806.5:n.*531del
ENST00000562767.2:c.84-9981del	ENSP00000456336.1:n.84-9981del
ENST00000636964.1:n.2995del
ENST00000637054.1:c.199-9981del	ENSP00000490807.1:n.199-9981del
ENST00000637888.1:c.199-9981del	ENSP00000490546.1:n.199-9981del
ENST00000638026.1:n.72del
ENST00000638076.1:c.*1070del	ENSP00000490373.1:n.*1070del
ENST00000646164.1:c.39-7928del
ENST00000249806.9:c.*531del	ENSP00000249806.5:n.*531del
ENST00000562767.1:c.84-9981del	ENSP00000456336.1:n.84-9981del
NM_017882.2:c.*531del	NP_060352.1:n.*531del
NM_017882.3:c.*531del MANE Select	NP_060352.1:n.*531del