Canonical Allele Identifier: CA272382382

Gene: CLN6

Linked Data

• dbSNP Id: rs943997229
• gnomAD v3: 15-68207787-CAGA-C
• gnomAD v4: 15-68207787-CAGA-C
• MyVariant Identifiers: chr15:g.68500126_68500128del (hg19) ; chr15:g.68207788_68207790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207791_68207793del , CM000677.2:g.68207791_68207793del	GRCh38
NC_000015.9:g.68500129_68500131del , CM000677.1:g.68500129_68500131del	GRCh37
NC_000015.8:g.66287183_66287185del	NCBI36
NG_008764.2:g.54422_54424del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*350_*352del MANE Select	ENSP00000249806.5:n.*350_*352del
ENST00000562767.2:c.84-10162_84-10160del	ENSP00000456336.1:n.84-10162_84-10160del
ENST00000565471.6:c.*350_*352del	ENSP00000457384.1:n.*350_*352del
ENST00000636964.1:n.2814_2816del
ENST00000637054.1:c.199-10162_199-10160del	ENSP00000490807.1:n.199-10162_199-10160de...
ENST00000637888.1:c.199-10162_199-10160del	ENSP00000490546.1:n.199-10162_199-10160de...
ENST00000638076.1:c.*889_*891del	ENSP00000490373.1:n.*889_*891del
ENST00000646164.1:c.39-8109_39-8107del
ENST00000249806.9:c.*350_*352del	ENSP00000249806.5:n.*350_*352del
ENST00000562767.1:c.84-10162_84-10160del	ENSP00000456336.1:n.84-10162_84-10160del
ENST00000565471.5:c.*350_*352del	ENSP00000457384.1:n.*350_*352del
NM_017882.2:c.*350_*352del	NP_060352.1:n.*350_*352del
NM_017882.3:c.*350_*352del MANE Select	NP_060352.1:n.*350_*352del