Canonical Allele Identifier: CA2574736158

Gene: CTSD

Linked Data

• gnomAD v3: 11-1753965-CAG-C
• gnomAD v4: 11-1753965-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753966_1753967del , CM000673.2:g.1753966_1753967del	GRCh38
NC_000011.9:g.1775196_1775197del , CM000673.1:g.1775196_1775197del	GRCh37
NC_000011.8:g.1731772_1731773del	NCBI36
NG_008655.1:g.15026_15027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+27_972+28del MANE Select	ENSP00000236671.2:n.972+27_972+28del
ENST00000367196.4:c.867+27_867+28del	ENSP00000356164.4:n.867+27_867+28del
ENST00000427721.3:c.397+27_397+28del
ENST00000429746.2:c.867+27_867+28del	ENSP00000402586.2:n.867+27_867+28del
ENST00000433655.6:c.*138+27_*138+28del	ENSP00000404902.1:n.*138+27_*138+28del
ENST00000438213.6:c.1089+27_1089+28del	ENSP00000415036.2:n.1089+27_1089+28del
ENST00000497544.3:n.615_616del
ENST00000636397.1:c.972+27_972+28del	ENSP00000489910.1:n.972+27_972+28del
ENST00000636571.1:c.951+27_951+28del	ENSP00000490770.1:n.951+27_951+28del
ENST00000636615.1:c.972+27_972+28del	ENSP00000490014.1:n.972+27_972+28del
ENST00000636843.1:c.966+27_966+28del	ENSP00000490897.1:n.966+27_966+28del
ENST00000637158.1:n.570+27_570+28del
ENST00000637381.2:n.3400+27_3400+28del
ENST00000637387.1:c.972+27_972+28del	ENSP00000490598.1:n.972+27_972+28del
ENST00000637815.2:c.954+27_954+28del	ENSP00000490344.1:n.954+27_954+28del
ENST00000637915.1:c.972+27_972+28del	ENSP00000490471.1:n.972+27_972+28del
ENST00000637937.1:n.280+27_280+28del
ENST00000678991.1:c.*833+27_*833+28del	ENSP00000503019.1:n.*833+27_*833+28del
ENST00000236671.6:c.972+27_972+28del	ENSP00000236671.2:n.972+27_972+28del
ENST00000427721.2:c.372+27_372+28del	ENSP00000415840.2:n.372+27_372+28del
ENST00000429746.1:c.303+27_303+28del	ENSP00000402586.1:n.303+27_303+28del
ENST00000433655.5:c.*138+27_*138+28del	ENSP00000404902.1:n.*138+27_*138+28del
ENST00000497544.1:n.615_616del
NM_001909.4:c.972+27_972+28del	NP_001900.1:n.972+27_972+28del
NM_001909.5:c.972+27_972+28del MANE Select	NP_001900.1:n.972+27_972+28del