Canonical Allele Identifier: CA2723225630

Gene: CTSD

Linked Data

• dbSNP Id: rs2133656891

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753415_1753420dup , CM000673.2:g.1753415_1753420dup	GRCh38
NC_000011.9:g.1774645_1774650dup , CM000673.1:g.1774645_1774650dup	GRCh37
NC_000011.8:g.1731221_1731226dup	NCBI36
NG_008655.1:g.15578_15583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*88_*93dup MANE Select	ENSP00000236671.2:n.*88_*93dup
ENST00000367196.4:c.*88_*93dup	ENSP00000356164.4:n.*88_*93dup
ENST00000427721.3:c.634+118_634+123dup
ENST00000429746.2:c.*88_*93dup	ENSP00000402586.2:n.*88_*93dup
ENST00000433655.6:c.*493_*498dup	ENSP00000404902.1:n.*493_*498dup
ENST00000438213.6:c.*88_*93dup	ENSP00000415036.2:n.*88_*93dup
ENST00000636397.1:c.1071+388_1071+393dup	ENSP00000489910.1:n.1071+388_1071+393dup
ENST00000636571.1:c.*88_*93dup	ENSP00000490770.1:n.*88_*93dup
ENST00000636579.1:c.72+388_72+393dup	ENSP00000490489.1:n.72+388_72+393dup
ENST00000636615.1:c.1071+388_1071+393dup	ENSP00000490014.1:n.1071+388_1071+393dup
ENST00000636843.1:c.*88_*93dup	ENSP00000490897.1:n.*88_*93dup
ENST00000637158.1:n.925_930dup
ENST00000637381.2:n.3755_3760dup
ENST00000637387.1:c.*88_*93dup	ENSP00000490598.1:n.*88_*93dup
ENST00000637815.2:c.*88_*93dup	ENSP00000490344.1:n.*88_*93dup
ENST00000637915.1:c.*88_*93dup	ENSP00000490471.1:n.*88_*93dup
ENST00000637937.1:n.635_640dup
ENST00000678991.1:c.*1188_*1193dup	ENSP00000503019.1:n.*1188_*1193dup
ENST00000236671.6:c.*88_*93dup	ENSP00000236671.2:n.*88_*93dup
ENST00000427721.2:c.471+388_471+393dup	ENSP00000415840.2:n.471+388_471+393dup
ENST00000429746.1:c.658_663dup	ENSP00000402586.1:n.658_663dup
ENST00000433655.5:c.*493_*498dup	ENSP00000404902.1:n.*493_*498dup
NM_001909.4:c.*88_*93dup	NP_001900.1:n.*88_*93dup
NM_001909.5:c.*88_*93dup MANE Select	NP_001900.1:n.*88_*93dup