Canonical Allele Identifier: CA1947834635
Gene: CTSD HGNC NCBI

Linked Data

dbSNP Id: rs1845849085

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1759511del , CM000673.2:g.1759511del GRCh38
NC_000011.9:g.1780741del , CM000673.1:g.1780741del GRCh37
NC_000011.8:g.1737317del NCBI36
NG_008655.1:g.9482del

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.352+5del MANE Select ENSP00000236671.2:n.352+5del
ENST00000367196.4:c.247+5del ENSP00000356164.4:n.247+5del
ENST00000429746.2:c.247+5del ENSP00000402586.2:n.247+5del
ENST00000433655.6:c.352+5del ENSP00000404902.1:n.352+5del
ENST00000438213.6:c.352+5del ENSP00000415036.2:n.352+5del
ENST00000636397.1:c.352+5del ENSP00000489910.1:n.352+5del
ENST00000636571.1:c.331+5del ENSP00000490770.1:n.331+5del
ENST00000636615.1:c.352+5del ENSP00000490014.1:n.352+5del
ENST00000636843.1:c.346+5del ENSP00000490897.1:n.346+5del
ENST00000637381.2:n.2780+5del
ENST00000637387.1:c.352+5del ENSP00000490598.1:n.352+5del
ENST00000637815.2:c.352+5del ENSP00000490344.1:n.352+5del
ENST00000637915.1:c.352+5del ENSP00000490471.1:n.352+5del
ENST00000677300.1:n.747+5del
ENST00000678991.1:c.*213+5del ENSP00000503019.1:n.*213+5del
ENST00000236671.6:c.352+5del ENSP00000236671.2:n.352+5del
ENST00000367196.3:c.247+5del ENSP00000356164.3:n.247+5del
ENST00000433655.5:c.352+5del ENSP00000404902.1:n.352+5del
ENST00000438213.5:c.307+5del ENSP00000415036.1:n.307+5del
NM_001909.4:c.352+5del NP_001900.1:n.352+5del
NM_001909.5:c.352+5del MANE Select NP_001900.1:n.352+5del