Canonical Allele Identifier: CA7630723

Gene: CLN6

Linked Data

• dbSNP Id: rs754405242
• ExAC: 15:68511024 TCTC / T
• gnomAD v2: 15-68511024-TCTC-T
• gnomAD v4: 15-68218686-TCTC-T
• MyVariant Identifiers: chr15:g.68511025_68511027del (hg19) ; chr15:g.68218687_68218689del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218694_68218696del , CM000677.2:g.68218694_68218696del	GRCh38
NC_000015.9:g.68511032_68511034del , CM000677.1:g.68511032_68511034del	GRCh37
NC_000015.8:g.66298086_66298088del	NCBI36
NG_008764.2:g.43523_43525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.84-39_84-37del MANE Select	ENSP00000249806.5:n.84-39_84-37del
ENST00000562767.2:c.83+10813_83+10815del	ENSP00000456336.1:n.83+10813_83+10815del
ENST00000563917.2:n.41-4301_41-4299del
ENST00000565471.6:c.84-8930_84-8928del	ENSP00000457384.1:n.84-8930_84-8928del
ENST00000635747.1:c.173-39_173-37del	ENSP00000490627.1:n.173-39_173-37del
ENST00000636020.1:n.216-39_216-37del
ENST00000636212.1:c.84-39_84-37del	ENSP00000489851.1:n.84-39_84-37del
ENST00000636314.1:c.84-4301_84-4299del	ENSP00000490295.1:n.84-4301_84-4299del
ENST00000636876.1:c.*104-39_*104-37del	ENSP00000489950.1:n.*104-39_*104-37del
ENST00000637054.1:c.84-39_84-37del	ENSP00000490807.1:n.84-39_84-37del
ENST00000637223.1:c.173-39_173-37del	ENSP00000490010.1:n.173-39_173-37del
ENST00000637450.1:c.84-4301_84-4299del	ENSP00000490204.1:n.84-4301_84-4299del
ENST00000637494.1:c.84-39_84-37del	ENSP00000490057.1:n.84-39_84-37del
ENST00000637667.1:c.84-39_84-37del	ENSP00000489843.1:n.84-39_84-37del
ENST00000637823.1:c.10-39_10-37del
ENST00000637888.1:c.84-39_84-37del	ENSP00000490546.1:n.84-39_84-37del
ENST00000638076.1:c.84-39_84-37del	ENSP00000490373.1:n.84-39_84-37del
ENST00000638144.1:n.31-4301_31-4299del
ENST00000249806.9:c.84-39_84-37del	ENSP00000249806.5:n.84-39_84-37del
ENST00000538696.5:c.180-39_180-37del	ENSP00000445770.1:n.180-39_180-37del
ENST00000562767.1:c.83+10813_83+10815del	ENSP00000456336.1:n.83+10813_83+10815del
ENST00000564752.1:c.84-39_84-37del	ENSP00000457822.1:n.84-39_84-37del
ENST00000564846.1:n.516-39_516-37del
ENST00000565471.5:c.84-8930_84-8928del	ENSP00000457384.1:n.84-8930_84-8928del
ENST00000566347.5:c.84-39_84-37del	ENSP00000457783.1:n.84-39_84-37del
ENST00000567060.5:c.84-39_84-37del	ENSP00000454818.1:n.84-39_84-37del
ENST00000569336.1:n.170-39_170-37del
NM_017882.2:c.84-39_84-37del	NP_060352.1:n.84-39_84-37del
XR_931861.1:n.187-39_187-37del
NM_017882.3:c.84-39_84-37del MANE Select	NP_060352.1:n.84-39_84-37del