Canonical Allele Identifier: CA1947825045

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753444_1753457delinsGGGCCTCCTGCTCT , CM000673.2:g.1753444_1753457delinsGGGCCTCCTGCTCT	GRCh38
NC_000011.9:g.1774674_1774687delinsGGGCCTCCTGCTCT , CM000673.1:g.1774674_1774687delinsGGGCCTCCTGCTCT	GRCh37
NC_000011.8:g.1731250_1731263delinsGGGCCTCCTGCTCT	NCBI36
NG_008655.1:g.15536_15549delinsAGAGCAGGAGGCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*46_*59delinsAGAGCAGGAGGCCC MANE Select	ENSP00000236671.2:n.*46_*59delinsAGAGCAGG...
ENST00000367196.4:c.*46_*59delinsAGAGCAGGAGGCCC	ENSP00000356164.4:n.*46_*59delinsAGAGCAGG...
ENST00000427721.3:c.634+76_634+89delinsAGAGCAGGAGGCCC
ENST00000429746.2:c.*46_*59delinsAGAGCAGGAGGCCC	ENSP00000402586.2:n.*46_*59delinsAGAGCAGG...
ENST00000433655.6:c.*451_*464delinsAGAGCAGGAGGCCC	ENSP00000404902.1:n.*451_*464delinsAGAGCA...
ENST00000438213.6:c.*46_*59delinsAGAGCAGGAGGCCC	ENSP00000415036.2:n.*46_*59delinsAGAGCAGG...
ENST00000636397.1:c.1071+346_1071+359delinsAGAGCAGGAGGCCC	ENSP00000489910.1:n.1071+346_1071+359deli...
ENST00000636571.1:c.*46_*59delinsAGAGCAGGAGGCCC	ENSP00000490770.1:n.*46_*59delinsAGAGCAGG...
ENST00000636579.1:c.72+346_72+359delinsAGAGCAGGAGGCCC	ENSP00000490489.1:n.72+346_72+359delinsAG...
ENST00000636615.1:c.1071+346_1071+359delinsAGAGCAGGAGGCCC	ENSP00000490014.1:n.1071+346_1071+359deli...
ENST00000636843.1:c.*46_*59delinsAGAGCAGGAGGCCC	ENSP00000490897.1:n.*46_*59delinsAGAGCAGG...
ENST00000637158.1:n.883_896delinsAGAGCAGGAGGCCC
ENST00000637381.2:n.3713_3726delinsAGAGCAGGAGGCCC
ENST00000637387.1:c.*46_*59delinsAGAGCAGGAGGCCC	ENSP00000490598.1:n.*46_*59delinsAGAGCAGG...
ENST00000637815.2:c.*46_*59delinsAGAGCAGGAGGCCC	ENSP00000490344.1:n.*46_*59delinsAGAGCAGG...
ENST00000637915.1:c.*46_*59delinsAGAGCAGGAGGCCC	ENSP00000490471.1:n.*46_*59delinsAGAGCAGG...
ENST00000637937.1:n.593_606delinsAGAGCAGGAGGCCC
ENST00000678991.1:c.*1146_*1159delinsAGAGCAGGAGGCCC	ENSP00000503019.1:n.*1146_*1159delinsAGAG...
ENST00000236671.6:c.*46_*59delinsAGAGCAGGAGGCCC	ENSP00000236671.2:n.*46_*59delinsAGAGCAGG...
ENST00000427721.2:c.471+346_471+359delinsAGAGCAGGAGGCCC	ENSP00000415840.2:n.471+346_471+359delins...
ENST00000429746.1:c.616_629delinsAGAGCAGGAGGCCC	ENSP00000402586.1:n.616_629delinsAGAGCAGG...
ENST00000433655.5:c.*451_*464delinsAGAGCAGGAGGCCC	ENSP00000404902.1:n.*451_*464delinsAGAGCA...
NM_001909.4:c.*46_*59delinsAGAGCAGGAGGCCC	NP_001900.1:n.*46_*59delinsAGAGCAGGAGGCCC...
NM_001909.5:c.*46_*59delinsAGAGCAGGAGGCCC MANE Select	NP_001900.1:n.*46_*59delinsAGAGCAGGAGGCCC...