Canonical Allele Identifier: CA1947825360

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753978_1753984delinsAGCCCCC , CM000673.2:g.1753978_1753984delinsAGCCCCC	GRCh38
NC_000011.9:g.1775208_1775214delinsAGCCCCC , CM000673.1:g.1775208_1775214delinsAGCCCCC	GRCh37
NC_000011.8:g.1731784_1731790delinsAGCCCCC	NCBI36
NG_008655.1:g.15009_15015delinsGGGGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+10_972+16delinsGGGGGCT MANE Select	ENSP00000236671.2:n.972+10_972+16delinsGGGGGCT
ENST00000367196.4:c.867+10_867+16delinsGGGGGCT	ENSP00000356164.4:n.867+10_867+16delinsGGGGGCT
ENST00000427721.3:c.397+10_397+16delinsGGGGGCT
ENST00000429746.2:c.867+10_867+16delinsGGGGGCT	ENSP00000402586.2:n.867+10_867+16delinsGGGGGCT
ENST00000433655.6:c.*138+10_*138+16delinsGGGGGCT	ENSP00000404902.1:n.*138+10_*138+16delinsGGGGGCT
ENST00000438213.6:c.1089+10_1089+16delinsGGGGGCT	ENSP00000415036.2:n.1089+10_1089+16delinsGGGGGCT
ENST00000497544.3:n.598_604delinsGGGGGCT
ENST00000636397.1:c.972+10_972+16delinsGGGGGCT	ENSP00000489910.1:n.972+10_972+16delinsGGGGGCT
ENST00000636571.1:c.951+10_951+16delinsGGGGGCT	ENSP00000490770.1:n.951+10_951+16delinsGGGGGCT
ENST00000636615.1:c.972+10_972+16delinsGGGGGCT	ENSP00000490014.1:n.972+10_972+16delinsGGGGGCT
ENST00000636843.1:c.966+10_966+16delinsGGGGGCT	ENSP00000490897.1:n.966+10_966+16delinsGGGGGCT
ENST00000637158.1:n.570+10_570+16delinsGGGGGCT
ENST00000637381.2:n.3400+10_3400+16delinsGGGGGCT
ENST00000637387.1:c.972+10_972+16delinsGGGGGCT	ENSP00000490598.1:n.972+10_972+16delinsGGGGGCT
ENST00000637815.2:c.954+10_954+16delinsGGGGGCT	ENSP00000490344.1:n.954+10_954+16delinsGGGGGCT
ENST00000637915.1:c.972+10_972+16delinsGGGGGCT	ENSP00000490471.1:n.972+10_972+16delinsGGGGGCT
ENST00000637937.1:n.280+10_280+16delinsGGGGGCT
ENST00000678991.1:c.*833+10_*833+16delinsGGGGGCT	ENSP00000503019.1:n.*833+10_*833+16delinsGGGGGCT
ENST00000236671.6:c.972+10_972+16delinsGGGGGCT	ENSP00000236671.2:n.972+10_972+16delinsGGGGGCT
ENST00000427721.2:c.372+10_372+16delinsGGGGGCT	ENSP00000415840.2:n.372+10_372+16delinsGGGGGCT
ENST00000429746.1:c.303+10_303+16delinsGGGGGCT	ENSP00000402586.1:n.303+10_303+16delinsGGGGGCT
ENST00000433655.5:c.*138+10_*138+16delinsGGGGGCT	ENSP00000404902.1:n.*138+10_*138+16delinsGGGGGCT
ENST00000497544.1:n.598_604delinsGGGGGCT
NM_001909.4:c.972+10_972+16delinsGGGGGCT	NP_001900.1:n.972+10_972+16delinsGGGGGCT
NM_001909.5:c.972+10_972+16delinsGGGGGCT MANE Select	NP_001900.1:n.972+10_972+16delinsGGGGGCT