Canonical Allele Identifier: CA1947825196

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753714_1753717delinsGCCC , CM000673.2:g.1753714_1753717delinsGCCC	GRCh38
NC_000011.9:g.1774944_1774947delinsGCCC , CM000673.1:g.1774944_1774947delinsGCCC	GRCh37
NC_000011.8:g.1731520_1731523delinsGCCC	NCBI36
NG_008655.1:g.15276_15279delinsGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1072-47_1072-44delinsGGGC MANE Select	ENSP00000236671.2:n.1072-47_1072-44delinsGGGC
ENST00000367196.4:c.967-47_967-44delinsGGGC	ENSP00000356164.4:n.967-47_967-44delinsGGGC
ENST00000427721.3:c.497-47_497-44delinsGGGC
ENST00000429746.2:c.967-47_967-44delinsGGGC	ENSP00000402586.2:n.967-47_967-44delinsGGGC
ENST00000433655.6:c.*238-47_*238-44delinsGGGC	ENSP00000404902.1:n.*238-47_*238-44delinsGGGC
ENST00000438213.6:c.1189-47_1189-44delinsGGGC	ENSP00000415036.2:n.1189-47_1189-44delinsGGGC
ENST00000497544.3:n.780-47_780-44delinsGGGC
ENST00000636397.1:c.1071+86_1071+89delinsGGGC	ENSP00000489910.1:n.1071+86_1071+89delinsGGGC
ENST00000636571.1:c.1051-47_1051-44delinsGGGC	ENSP00000490770.1:n.1051-47_1051-44delinsGGGC
ENST00000636579.1:c.72+86_72+89delinsGGGC	ENSP00000490489.1:n.72+86_72+89delinsGGGC
ENST00000636615.1:c.1071+86_1071+89delinsGGGC	ENSP00000490014.1:n.1071+86_1071+89delinsGGGC
ENST00000636843.1:c.1066-47_1066-44delinsGGGC	ENSP00000490897.1:n.1066-47_1066-44delinsGGGC
ENST00000637158.1:n.670-47_670-44delinsGGGC
ENST00000637381.2:n.3500-47_3500-44delinsGGGC
ENST00000637387.1:c.1051-47_1051-44delinsGGGC	ENSP00000490598.1:n.1051-47_1051-44delinsGGGC
ENST00000637815.2:c.1054-47_1054-44delinsGGGC	ENSP00000490344.1:n.1054-47_1054-44delinsGGGC
ENST00000637915.1:c.1072-56_1072-53delinsGGGC	ENSP00000490471.1:n.1072-56_1072-53delinsGGGC
ENST00000637937.1:n.380-47_380-44delinsGGGC
ENST00000678991.1:c.*933-47_*933-44delinsGGGC	ENSP00000503019.1:n.*933-47_*933-44delinsGGGC
ENST00000236671.6:c.1072-47_1072-44delinsGGGC	ENSP00000236671.2:n.1072-47_1072-44delinsGGGC
ENST00000427721.2:c.471+86_471+89delinsGGGC	ENSP00000415840.2:n.471+86_471+89delinsGGGC
ENST00000429746.1:c.403-47_403-44delinsGGGC	ENSP00000402586.1:n.403-47_403-44delinsGGGC
ENST00000433655.5:c.*238-47_*238-44delinsGGGC	ENSP00000404902.1:n.*238-47_*238-44delinsGGGC
NM_001909.4:c.1072-47_1072-44delinsGGGC	NP_001900.1:n.1072-47_1072-44delinsGGGC
NM_001909.5:c.1072-47_1072-44delinsGGGC MANE Select	NP_001900.1:n.1072-47_1072-44delinsGGGC