Canonical Allele Identifier: CA1947825061

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753466_1753468delinsCCT , CM000673.2:g.1753466_1753468delinsCCT	GRCh38
NC_000011.9:g.1774696_1774698delinsCCT , CM000673.1:g.1774696_1774698delinsCCT	GRCh37
NC_000011.8:g.1731272_1731274delinsCCT	NCBI36
NG_008655.1:g.15525_15527delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*35_*37delinsAGG MANE Select	ENSP00000236671.2:n.*35_*37delinsAGG
ENST00000367196.4:c.*35_*37delinsAGG	ENSP00000356164.4:n.*35_*37delinsAGG
ENST00000427721.3:c.634+65_634+67delinsAGG
ENST00000429746.2:c.*35_*37delinsAGG	ENSP00000402586.2:n.*35_*37delinsAGG
ENST00000433655.6:c.*440_*442delinsAGG	ENSP00000404902.1:n.*440_*442delinsAGG
ENST00000438213.6:c.*35_*37delinsAGG	ENSP00000415036.2:n.*35_*37delinsAGG
ENST00000636397.1:c.1071+335_1071+337delinsAGG	ENSP00000489910.1:n.1071+335_1071+337deli...
ENST00000636571.1:c.*35_*37delinsAGG	ENSP00000490770.1:n.*35_*37delinsAGG
ENST00000636579.1:c.72+335_72+337delinsAGG	ENSP00000490489.1:n.72+335_72+337delinsAG...
ENST00000636615.1:c.1071+335_1071+337delinsAGG	ENSP00000490014.1:n.1071+335_1071+337deli...
ENST00000636843.1:c.*35_*37delinsAGG	ENSP00000490897.1:n.*35_*37delinsAGG
ENST00000637158.1:n.872_874delinsAGG
ENST00000637381.2:n.3702_3704delinsAGG
ENST00000637387.1:c.*35_*37delinsAGG	ENSP00000490598.1:n.*35_*37delinsAGG
ENST00000637815.2:c.*35_*37delinsAGG	ENSP00000490344.1:n.*35_*37delinsAGG
ENST00000637915.1:c.*35_*37delinsAGG	ENSP00000490471.1:n.*35_*37delinsAGG
ENST00000637937.1:n.582_584delinsAGG
ENST00000678991.1:c.*1135_*1137delinsAGG	ENSP00000503019.1:n.*1135_*1137delinsAGG
ENST00000236671.6:c.*35_*37delinsAGG	ENSP00000236671.2:n.*35_*37delinsAGG
ENST00000427721.2:c.471+335_471+337delinsAGG	ENSP00000415840.2:n.471+335_471+337delins...
ENST00000429746.1:c.605_607delinsAGG	ENSP00000402586.1:n.605_607delinsAGG
ENST00000433655.5:c.*440_*442delinsAGG	ENSP00000404902.1:n.*440_*442delinsAGG
NM_001909.4:c.*35_*37delinsAGG	NP_001900.1:n.*35_*37delinsAGG
NM_001909.5:c.*35_*37delinsAGG MANE Select	NP_001900.1:n.*35_*37delinsAGG