Canonical Allele Identifier: CA1947825347

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753957_1753969delinsGCCAGCCCCAGCC , CM000673.2:g.1753957_1753969delinsGCCAGCCCCAGCC	GRCh38
NC_000011.9:g.1775187_1775199delinsGCCAGCCCCAGCC , CM000673.1:g.1775187_1775199delinsGCCAGCCCCAGCC	GRCh37
NC_000011.8:g.1731763_1731775delinsGCCAGCCCCAGCC	NCBI36
NG_008655.1:g.15024_15036delinsGGCTGGGGCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+25_972+37delinsGGCTGGGGCTGGC MANE Select	ENSP00000236671.2:n.972+25_972+37delinsGGCTGGGGCTGGC
ENST00000367196.4:c.867+25_867+37delinsGGCTGGGGCTGGC	ENSP00000356164.4:n.867+25_867+37delinsGGCTGGGGCTGGC
ENST00000427721.3:c.397+25_397+37delinsGGCTGGGGCTGGC
ENST00000429746.2:c.867+25_867+37delinsGGCTGGGGCTGGC	ENSP00000402586.2:n.867+25_867+37delinsGGCTGGGGCTGGC
ENST00000433655.6:c.*138+25_*138+37delinsGGCTGGGGCTGGC	ENSP00000404902.1:n.*138+25_*138+37delinsGGCTGGGGCTGGC
ENST00000438213.6:c.1089+25_1089+37delinsGGCTGGGGCTGGC	ENSP00000415036.2:n.1089+25_1089+37delinsGGCTGGGGCTGGC
ENST00000497544.3:n.613_625delinsGGCTGGGGCTGGC
ENST00000636397.1:c.972+25_972+37delinsGGCTGGGGCTGGC	ENSP00000489910.1:n.972+25_972+37delinsGGCTGGGGCTGGC
ENST00000636571.1:c.951+25_951+37delinsGGCTGGGGCTGGC	ENSP00000490770.1:n.951+25_951+37delinsGGCTGGGGCTGGC
ENST00000636615.1:c.972+25_972+37delinsGGCTGGGGCTGGC	ENSP00000490014.1:n.972+25_972+37delinsGGCTGGGGCTGGC
ENST00000636843.1:c.966+25_966+37delinsGGCTGGGGCTGGC	ENSP00000490897.1:n.966+25_966+37delinsGGCTGGGGCTGGC
ENST00000637158.1:n.570+25_570+37delinsGGCTGGGGCTGGC
ENST00000637381.2:n.3400+25_3400+37delinsGGCTGGGGCTGGC
ENST00000637387.1:c.972+25_972+37delinsGGCTGGGGCTGGC	ENSP00000490598.1:n.972+25_972+37delinsGGCTGGGGCTGGC
ENST00000637815.2:c.954+25_954+37delinsGGCTGGGGCTGGC	ENSP00000490344.1:n.954+25_954+37delinsGGCTGGGGCTGGC
ENST00000637915.1:c.972+25_972+37delinsGGCTGGGGCTGGC	ENSP00000490471.1:n.972+25_972+37delinsGGCTGGGGCTGGC
ENST00000637937.1:n.280+25_280+37delinsGGCTGGGGCTGGC
ENST00000678991.1:c.*833+25_*833+37delinsGGCTGGGGCTGGC	ENSP00000503019.1:n.*833+25_*833+37delinsGGCTGGGGCTGGC
ENST00000236671.6:c.972+25_972+37delinsGGCTGGGGCTGGC	ENSP00000236671.2:n.972+25_972+37delinsGGCTGGGGCTGGC
ENST00000427721.2:c.372+25_372+37delinsGGCTGGGGCTGGC	ENSP00000415840.2:n.372+25_372+37delinsGGCTGGGGCTGGC
ENST00000429746.1:c.303+25_303+37delinsGGCTGGGGCTGGC	ENSP00000402586.1:n.303+25_303+37delinsGGCTGGGGCTGGC
ENST00000433655.5:c.*138+25_*138+37delinsGGCTGGGGCTGGC	ENSP00000404902.1:n.*138+25_*138+37delinsGGCTGGGGCTGGC
ENST00000497544.1:n.613_625delinsGGCTGGGGCTGGC
NM_001909.4:c.972+25_972+37delinsGGCTGGGGCTGGC	NP_001900.1:n.972+25_972+37delinsGGCTGGGGCTGGC
NM_001909.5:c.972+25_972+37delinsGGCTGGGGCTGGC MANE Select	NP_001900.1:n.972+25_972+37delinsGGCTGGGGCTGGC