Canonical Allele Identifier: CA2611926810

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753446-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753447_1753448del , CM000673.2:g.1753447_1753448del	GRCh38
NC_000011.9:g.1774677_1774678del , CM000673.1:g.1774677_1774678del	GRCh37
NC_000011.8:g.1731253_1731254del	NCBI36
NG_008655.1:g.15545_15546del

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*55_*56del MANE Select	ENSP00000236671.2:n.*55_*56del
ENST00000367196.4:c.*55_*56del	ENSP00000356164.4:n.*55_*56del
ENST00000427721.3:c.634+85_634+86del
ENST00000429746.2:c.*55_*56del	ENSP00000402586.2:n.*55_*56del
ENST00000433655.6:c.*460_*461del	ENSP00000404902.1:n.*460_*461del
ENST00000438213.6:c.*55_*56del	ENSP00000415036.2:n.*55_*56del
ENST00000636397.1:c.1071+355_1071+356del	ENSP00000489910.1:n.1071+355_1071+356del
ENST00000636571.1:c.*55_*56del	ENSP00000490770.1:n.*55_*56del
ENST00000636579.1:c.72+355_72+356del	ENSP00000490489.1:n.72+355_72+356del
ENST00000636615.1:c.1071+355_1071+356del	ENSP00000490014.1:n.1071+355_1071+356del
ENST00000636843.1:c.*55_*56del	ENSP00000490897.1:n.*55_*56del
ENST00000637158.1:n.892_893del
ENST00000637381.2:n.3722_3723del
ENST00000637387.1:c.*55_*56del	ENSP00000490598.1:n.*55_*56del
ENST00000637815.2:c.*55_*56del	ENSP00000490344.1:n.*55_*56del
ENST00000637915.1:c.*55_*56del	ENSP00000490471.1:n.*55_*56del
ENST00000637937.1:n.602_603del
ENST00000678991.1:c.*1155_*1156del	ENSP00000503019.1:n.*1155_*1156del
ENST00000236671.6:c.*55_*56del	ENSP00000236671.2:n.*55_*56del
ENST00000427721.2:c.471+355_471+356del	ENSP00000415840.2:n.471+355_471+356del
ENST00000429746.1:c.625_626del	ENSP00000402586.1:n.625_626del
ENST00000433655.5:c.*460_*461del	ENSP00000404902.1:n.*460_*461del
NM_001909.4:c.*55_*56del	NP_001900.1:n.*55_*56del
NM_001909.5:c.*55_*56del MANE Select	NP_001900.1:n.*55_*56del