Canonical Allele Identifier: CA715176714

Gene: CLN6

Linked Data

• dbSNP Id: rs1385796671
• gnomAD v3: 15-68218710-CCT-C
• gnomAD v4: 15-68218710-CCT-C
• MyVariant Identifiers: chr15:g.68511049_68511050del (hg19) ; chr15:g.68218711_68218712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218711_68218712del , CM000677.2:g.68218711_68218712del	GRCh38
NC_000015.9:g.68511049_68511050del , CM000677.1:g.68511049_68511050del	GRCh37
NC_000015.8:g.66298103_66298104del	NCBI36
NG_008764.2:g.43500_43501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.84-62_84-61del MANE Select	ENSP00000249806.5:n.84-62_84-61del
ENST00000562767.2:c.83+10790_83+10791del	ENSP00000456336.1:n.83+10790_83+10791del
ENST00000563917.2:n.41-4324_41-4323del
ENST00000565471.6:c.84-8953_84-8952del	ENSP00000457384.1:n.84-8953_84-8952del
ENST00000635747.1:c.173-62_173-61del	ENSP00000490627.1:n.173-62_173-61del
ENST00000636020.1:n.216-62_216-61del
ENST00000636212.1:c.84-62_84-61del	ENSP00000489851.1:n.84-62_84-61del
ENST00000636314.1:c.84-4324_84-4323del	ENSP00000490295.1:n.84-4324_84-4323del
ENST00000636876.1:c.*104-62_*104-61del	ENSP00000489950.1:n.*104-62_*104-61del
ENST00000637054.1:c.84-62_84-61del	ENSP00000490807.1:n.84-62_84-61del
ENST00000637223.1:c.173-62_173-61del	ENSP00000490010.1:n.173-62_173-61del
ENST00000637450.1:c.84-4324_84-4323del	ENSP00000490204.1:n.84-4324_84-4323del
ENST00000637494.1:c.84-62_84-61del	ENSP00000490057.1:n.84-62_84-61del
ENST00000637667.1:c.84-62_84-61del	ENSP00000489843.1:n.84-62_84-61del
ENST00000637823.1:c.10-62_10-61del
ENST00000637888.1:c.84-62_84-61del	ENSP00000490546.1:n.84-62_84-61del
ENST00000638076.1:c.84-62_84-61del	ENSP00000490373.1:n.84-62_84-61del
ENST00000638144.1:n.31-4324_31-4323del
ENST00000249806.9:c.84-62_84-61del	ENSP00000249806.5:n.84-62_84-61del
ENST00000538696.5:c.180-62_180-61del	ENSP00000445770.1:n.180-62_180-61del
ENST00000562767.1:c.83+10790_83+10791del	ENSP00000456336.1:n.83+10790_83+10791del
ENST00000564752.1:c.84-62_84-61del	ENSP00000457822.1:n.84-62_84-61del
ENST00000564846.1:n.516-62_516-61del
ENST00000565471.5:c.84-8953_84-8952del	ENSP00000457384.1:n.84-8953_84-8952del
ENST00000566347.5:c.84-62_84-61del	ENSP00000457783.1:n.84-62_84-61del
ENST00000567060.5:c.84-62_84-61del	ENSP00000454818.1:n.84-62_84-61del
ENST00000569336.1:n.170-62_170-61del
NM_017882.2:c.84-62_84-61del	NP_060352.1:n.84-62_84-61del
XR_931861.1:n.187-62_187-61del
NM_017882.3:c.84-62_84-61del MANE Select	NP_060352.1:n.84-62_84-61del