Canonical Allele Identifier: CA2573146021
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1754060del , CM000673.2:g.1754060del GRCh38
NC_000011.9:g.1775290del , CM000673.1:g.1775290del GRCh37
NC_000011.8:g.1731866del NCBI36
NG_008655.1:g.14935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.908del MANE Select ENSP00000236671.2:p.Gly303AlafsTer18
ENST00000367196.4:c.803del ENSP00000356164.4:p.Gly268AlafsTer18
ENST00000427721.3:c.333del
ENST00000429746.2:c.803del ENSP00000402586.2:p.Gly268AlafsTer18
ENST00000433655.6:c.*74del ENSP00000404902.1:n.*74del
ENST00000438213.6:c.1025del ENSP00000415036.2:p.Gly342AlafsTer18
ENST00000497544.3:n.524del
ENST00000636397.1:c.908del ENSP00000489910.1:p.Gly303AlafsTer18
ENST00000636571.1:c.887del ENSP00000490770.1:p.Gly296AlafsTer18
ENST00000636615.1:c.908del ENSP00000490014.1:p.Gly303AlafsTer18
ENST00000636843.1:c.902del ENSP00000490897.1:p.Gly301AlafsTer18
ENST00000637158.1:n.506del
ENST00000637381.2:n.3336del
ENST00000637387.1:c.908del ENSP00000490598.1:p.Gly303AlafsTer18
ENST00000637815.2:c.890del ENSP00000490344.1:p.Gly297AlafsTer18
ENST00000637915.1:c.908del ENSP00000490471.1:p.Gly303AlafsTer18
ENST00000637937.1:n.216del
ENST00000678991.1:c.*769del ENSP00000503019.1:n.*769del
ENST00000236671.6:c.908del ENSP00000236671.2:p.Gly303AlafsTer18
ENST00000427721.2:c.308del ENSP00000415840.2:p.Gly103AlafsTer18
ENST00000429746.1:c.239del ENSP00000402586.1:p.Gly80AlafsTer18
ENST00000433655.5:c.*74del ENSP00000404902.1:n.*74del
ENST00000438213.5:c.863del ENSP00000415036.1:p.Gly288AlafsTer?
ENST00000497544.1:n.524del
NM_001909.4:c.908del NP_001900.1:p.Gly303AlafsTer18
NM_001909.5:c.908del MANE Select NP_001900.1:p.Gly303AlafsTer18