Canonical Allele Identifier: CA918804389

Gene: CTSD

Linked Data

• dbSNP Id: rs1565018401
• gnomAD v4: 11-1753507-AGGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753511_1753514del , CM000673.2:g.1753511_1753514del	GRCh38
NC_000011.9:g.1774741_1774744del , CM000673.1:g.1774741_1774744del	GRCh37
NC_000011.8:g.1731317_1731320del	NCBI36
NG_008655.1:g.15482_15485del

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1231_1234del MANE Select	ENSP00000236671.2:p.Arg411SerfsTer?
ENST00000367196.4:c.1126_1129del	ENSP00000356164.4:p.Arg376SerfsTer?
ENST00000427721.3:c.634+22_634+25del
ENST00000429746.2:c.1126_1129del	ENSP00000402586.2:p.Arg376SerfsTer?
ENST00000433655.6:c.*397_*400del	ENSP00000404902.1:n.*397_*400del
ENST00000438213.6:c.1348_1351del	ENSP00000415036.2:p.Arg450SerfsTer?
ENST00000636397.1:c.1071+292_1071+295del	ENSP00000489910.1:n.1071+292_1071+295del
ENST00000636571.1:c.1210_1213del	ENSP00000490770.1:p.Arg404SerfsTer?
ENST00000636579.1:c.72+292_72+295del	ENSP00000490489.1:n.72+292_72+295del
ENST00000636615.1:c.1071+292_1071+295del	ENSP00000490014.1:n.1071+292_1071+295del
ENST00000636843.1:c.1225_1228del	ENSP00000490897.1:p.Arg409SerfsTer?
ENST00000637158.1:n.829_832del
ENST00000637381.2:n.3659_3662del
ENST00000637387.1:c.1210_1213del	ENSP00000490598.1:p.Arg404SerfsTer?
ENST00000637815.2:c.1213_1216del	ENSP00000490344.1:p.Arg405SerfsTer?
ENST00000637915.1:c.1222_1225del	ENSP00000490471.1:p.Arg408SerfsTer?
ENST00000637937.1:n.539_542del
ENST00000678991.1:c.*1092_*1095del	ENSP00000503019.1:n.*1092_*1095del
ENST00000236671.6:c.1231_1234del	ENSP00000236671.2:p.Arg411SerfsTer?
ENST00000427721.2:c.471+292_471+295del	ENSP00000415840.2:n.471+292_471+295del
ENST00000429746.1:c.562_565del	ENSP00000402586.1:p.Arg188SerfsTer?
ENST00000433655.5:c.*397_*400del	ENSP00000404902.1:n.*397_*400del
NM_001909.4:c.1231_1234del	NP_001900.1:p.Arg411SerfsTer?
NM_001909.5:c.1231_1234del MANE Select	NP_001900.1:p.Arg411SerfsTer?