Canonical Allele Identifier: CA2546043083

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753490_1753493del , CM000673.2:g.1753490_1753493del	GRCh38
NC_000011.9:g.1774720_1774723del , CM000673.1:g.1774720_1774723del	GRCh37
NC_000011.8:g.1731296_1731299del	NCBI36
NG_008655.1:g.15502_15505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*12_*15del MANE Select	ENSP00000236671.2:n.*12_*15del
ENST00000367196.4:c.*12_*15del	ENSP00000356164.4:n.*12_*15del
ENST00000427721.3:c.634+42_634+45del
ENST00000429746.2:c.*12_*15del	ENSP00000402586.2:n.*12_*15del
ENST00000433655.6:c.*417_*420del	ENSP00000404902.1:n.*417_*420del
ENST00000438213.6:c.*12_*15del	ENSP00000415036.2:n.*12_*15del
ENST00000636397.1:c.1071+312_1071+315del	ENSP00000489910.1:n.1071+312_1071+315del
ENST00000636571.1:c.*12_*15del	ENSP00000490770.1:n.*12_*15del
ENST00000636579.1:c.72+312_72+315del	ENSP00000490489.1:n.72+312_72+315del
ENST00000636615.1:c.1071+312_1071+315del	ENSP00000490014.1:n.1071+312_1071+315del
ENST00000636843.1:c.*12_*15del	ENSP00000490897.1:n.*12_*15del
ENST00000637158.1:n.849_852del
ENST00000637381.2:n.3679_3682del
ENST00000637387.1:c.*12_*15del	ENSP00000490598.1:n.*12_*15del
ENST00000637815.2:c.*12_*15del	ENSP00000490344.1:n.*12_*15del
ENST00000637915.1:c.*12_*15del	ENSP00000490471.1:n.*12_*15del
ENST00000637937.1:n.559_562del
ENST00000678991.1:c.*1112_*1115del	ENSP00000503019.1:n.*1112_*1115del
ENST00000236671.6:c.*12_*15del	ENSP00000236671.2:n.*12_*15del
ENST00000427721.2:c.471+312_471+315del	ENSP00000415840.2:n.471+312_471+315del
ENST00000429746.1:c.582_585del	ENSP00000402586.1:n.582_585del
ENST00000433655.5:c.*417_*420del	ENSP00000404902.1:n.*417_*420del
NM_001909.4:c.*12_*15del	NP_001900.1:n.*12_*15del
NM_001909.5:c.*12_*15del MANE Select	NP_001900.1:n.*12_*15del