Canonical Allele Identifier: CA2629164961

Gene: CLN6

Linked Data

• gnomAD v4: 15-68229584-TGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68229595_68229650del , CM000677.2:g.68229595_68229650del	GRCh38
NC_000015.9:g.68521933_68521988del , CM000677.1:g.68521933_68521988del	GRCh37
NC_000015.8:g.66308987_66309042del	NCBI36
NG_008764.2:g.32572_32627del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.-56_-1del MANE Select	ENSP00000249806.5:n.-56_-1del
ENST00000562767.2:c.-56_-1del	ENSP00000456336.1:n.-56_-1del
ENST00000563917.2:n.41-15252_41-15197del
ENST00000565471.6:c.-56_-1del	ENSP00000457384.1:n.-56_-1del
ENST00000635747.1:c.173-10990_173-10935del	ENSP00000490627.1:n.173-10990_173-10935de...
ENST00000636020.1:n.77_132del
ENST00000636212.1:c.-56_-1del	ENSP00000489851.1:n.-56_-1del
ENST00000636314.1:c.-56_-1del	ENSP00000490295.1:n.-56_-1del
ENST00000636876.1:c.*104-10990_*104-10935del	ENSP00000489950.1:n.*104-10990_*104-10935...
ENST00000637054.1:c.-56_-1del	ENSP00000490807.1:n.-56_-1del
ENST00000637223.1:c.173-10990_173-10935del	ENSP00000490010.1:n.173-10990_173-10935de...
ENST00000637450.1:c.-56_-1del	ENSP00000490204.1:n.-56_-1del
ENST00000637494.1:c.-56_-1del	ENSP00000490057.1:n.-56_-1del
ENST00000637667.1:c.-56_-1del	ENSP00000489843.1:n.-56_-1del
ENST00000637888.1:c.-56_-1del	ENSP00000490546.1:n.-56_-1del
ENST00000638076.1:c.-56_-1del	ENSP00000490373.1:n.-56_-1del
ENST00000638144.1:n.31-15252_31-15197del
ENST00000249806.9:c.-56_-1del	ENSP00000249806.5:n.-56_-1del
ENST00000538696.5:c.180-10990_180-10935del	ENSP00000445770.1:n.180-10990_180-10935de...
ENST00000562767.1:c.-56_-1del	ENSP00000456336.1:n.-56_-1del
ENST00000564752.1:c.-56_-1del	ENSP00000457822.1:n.-56_-1del
ENST00000564846.1:n.516-10990_516-10935del
ENST00000565471.5:c.-56_-1del	ENSP00000457384.1:n.-56_-1del
ENST00000566347.5:c.-56_-1del	ENSP00000457783.1:n.-56_-1del
ENST00000567060.5:c.-56_-1del	ENSP00000454818.1:n.-56_-1del
ENST00000569336.1:n.31_86del
NM_017882.2:c.-56_-1del	NP_060352.1:n.-56_-1del
XR_931861.1:n.48_103del
NM_017882.3:c.-56_-1del MANE Select	NP_060352.1:n.-56_-1del