Canonical Allele Identifier: CA2790163014

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753978_1753980del , CM000673.2:g.1753978_1753980del	GRCh38
NC_000011.9:g.1775208_1775210del , CM000673.1:g.1775208_1775210del	GRCh37
NC_000011.8:g.1731784_1731786del	NCBI36
NG_008655.1:g.15014_15016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+15_972+17del MANE Select	ENSP00000236671.2:n.972+15_972+17del
ENST00000367196.4:c.867+15_867+17del	ENSP00000356164.4:n.867+15_867+17del
ENST00000427721.3:c.397+15_397+17del
ENST00000429746.2:c.867+15_867+17del	ENSP00000402586.2:n.867+15_867+17del
ENST00000433655.6:c.*138+15_*138+17del	ENSP00000404902.1:n.*138+15_*138+17del
ENST00000438213.6:c.1089+15_1089+17del	ENSP00000415036.2:n.1089+15_1089+17del
ENST00000497544.3:n.603_605del
ENST00000636397.1:c.972+15_972+17del	ENSP00000489910.1:n.972+15_972+17del
ENST00000636571.1:c.951+15_951+17del	ENSP00000490770.1:n.951+15_951+17del
ENST00000636615.1:c.972+15_972+17del	ENSP00000490014.1:n.972+15_972+17del
ENST00000636843.1:c.966+15_966+17del	ENSP00000490897.1:n.966+15_966+17del
ENST00000637158.1:n.570+15_570+17del
ENST00000637381.2:n.3400+15_3400+17del
ENST00000637387.1:c.972+15_972+17del	ENSP00000490598.1:n.972+15_972+17del
ENST00000637815.2:c.954+15_954+17del	ENSP00000490344.1:n.954+15_954+17del
ENST00000637915.1:c.972+15_972+17del	ENSP00000490471.1:n.972+15_972+17del
ENST00000637937.1:n.280+15_280+17del
ENST00000678991.1:c.*833+15_*833+17del	ENSP00000503019.1:n.*833+15_*833+17del
ENST00000236671.6:c.972+15_972+17del	ENSP00000236671.2:n.972+15_972+17del
ENST00000427721.2:c.372+15_372+17del	ENSP00000415840.2:n.372+15_372+17del
ENST00000429746.1:c.303+15_303+17del	ENSP00000402586.1:n.303+15_303+17del
ENST00000433655.5:c.*138+15_*138+17del	ENSP00000404902.1:n.*138+15_*138+17del
ENST00000497544.1:n.603_605del
NM_001909.4:c.972+15_972+17del	NP_001900.1:n.972+15_972+17del
NM_001909.5:c.972+15_972+17del MANE Select	NP_001900.1:n.972+15_972+17del