Canonical Allele Identifier: CA2574765888

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753429_1753430insA , CM000673.2:g.1753429_1753430insA	GRCh38
NC_000011.9:g.1774659_1774660insA , CM000673.1:g.1774659_1774660insA	GRCh37
NC_000011.8:g.1731235_1731236insA	NCBI36
NG_008655.1:g.15563_15564insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*73_*74insT MANE Select	ENSP00000236671.2:n.*73_*74insT
ENST00000367196.4:c.*73_*74insT	ENSP00000356164.4:n.*73_*74insT
ENST00000427721.3:c.634+103_634+104insT
ENST00000429746.2:c.*73_*74insT	ENSP00000402586.2:n.*73_*74insT
ENST00000433655.6:c.*478_*479insT	ENSP00000404902.1:n.*478_*479insT
ENST00000438213.6:c.*73_*74insT	ENSP00000415036.2:n.*73_*74insT
ENST00000636397.1:c.1071+373_1071+374insT	ENSP00000489910.1:n.1071+373_1071+374insT
ENST00000636571.1:c.*73_*74insT	ENSP00000490770.1:n.*73_*74insT
ENST00000636579.1:c.72+373_72+374insT	ENSP00000490489.1:n.72+373_72+374insT
ENST00000636615.1:c.1071+373_1071+374insT	ENSP00000490014.1:n.1071+373_1071+374insT
ENST00000636843.1:c.*73_*74insT	ENSP00000490897.1:n.*73_*74insT
ENST00000637158.1:n.910_911insT
ENST00000637381.2:n.3740_3741insT
ENST00000637387.1:c.*73_*74insT	ENSP00000490598.1:n.*73_*74insT
ENST00000637815.2:c.*73_*74insT	ENSP00000490344.1:n.*73_*74insT
ENST00000637915.1:c.*73_*74insT	ENSP00000490471.1:n.*73_*74insT
ENST00000637937.1:n.620_621insT
ENST00000678991.1:c.*1173_*1174insT	ENSP00000503019.1:n.*1173_*1174insT
ENST00000236671.6:c.*73_*74insT	ENSP00000236671.2:n.*73_*74insT
ENST00000427721.2:c.471+373_471+374insT	ENSP00000415840.2:n.471+373_471+374insT
ENST00000429746.1:c.643_644insT	ENSP00000402586.1:n.643_644insT
ENST00000433655.5:c.*478_*479insT	ENSP00000404902.1:n.*478_*479insT
NM_001909.4:c.*73_*74insT	NP_001900.1:n.*73_*74insT
NM_001909.5:c.*73_*74insT MANE Select	NP_001900.1:n.*73_*74insT