Canonical Allele Identifier: CA2790162974

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753590_1753596del , CM000673.2:g.1753590_1753596del	GRCh38
NC_000011.9:g.1774820_1774826del , CM000673.1:g.1774820_1774826del	GRCh37
NC_000011.8:g.1731396_1731402del	NCBI36
NG_008655.1:g.15401_15407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1150_1156del MANE Select	ENSP00000236671.2:p.Ile384AlafsTer?
ENST00000367196.4:c.1045_1051del	ENSP00000356164.4:p.Ile349AlafsTer?
ENST00000427721.3:c.575_581del
ENST00000429746.2:c.1045_1051del	ENSP00000402586.2:p.Ile349AlafsTer?
ENST00000433655.6:c.*316_*322del	ENSP00000404902.1:n.*316_*322del
ENST00000438213.6:c.1267_1273del	ENSP00000415036.2:p.Ile423AlafsTer?
ENST00000636397.1:c.1071+211_1071+217del	ENSP00000489910.1:n.1071+211_1071+217del
ENST00000636571.1:c.1129_1135del	ENSP00000490770.1:p.Ile377AlafsTer?
ENST00000636579.1:c.72+211_72+217del	ENSP00000490489.1:n.72+211_72+217del
ENST00000636615.1:c.1071+211_1071+217del	ENSP00000490014.1:n.1071+211_1071+217del
ENST00000636843.1:c.1144_1150del	ENSP00000490897.1:p.Ile382AlafsTer?
ENST00000637158.1:n.748_754del
ENST00000637381.2:n.3578_3584del
ENST00000637387.1:c.1129_1135del	ENSP00000490598.1:p.Ile377AlafsTer?
ENST00000637815.2:c.1132_1138del	ENSP00000490344.1:p.Ile378AlafsTer?
ENST00000637915.1:c.1141_1147del	ENSP00000490471.1:p.Ile381AlafsTer?
ENST00000637937.1:n.458_464del
ENST00000678991.1:c.*1011_*1017del	ENSP00000503019.1:n.*1011_*1017del
ENST00000236671.6:c.1150_1156del	ENSP00000236671.2:p.Ile384AlafsTer?
ENST00000427721.2:c.471+211_471+217del	ENSP00000415840.2:n.471+211_471+217del
ENST00000429746.1:c.481_487del	ENSP00000402586.1:p.Ile161AlafsTer?
ENST00000433655.5:c.*316_*322del	ENSP00000404902.1:n.*316_*322del
NM_001909.4:c.1150_1156del	NP_001900.1:p.Ile384AlafsTer?
NM_001909.5:c.1150_1156del MANE Select	NP_001900.1:p.Ile384AlafsTer?