Canonical Allele Identifier: CA2723225742

Gene: CTSD

Linked Data

• dbSNP Id: rs2133657568

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753847_1753848del , CM000673.2:g.1753847_1753848del	GRCh38
NC_000011.9:g.1775077_1775078del , CM000673.1:g.1775077_1775078del	GRCh37
NC_000011.8:g.1731653_1731654del	NCBI36
NG_008655.1:g.15146_15147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1027_1028del MANE Select	ENSP00000236671.2:p.Gly343ArgfsTer?
ENST00000367196.4:c.922_923del	ENSP00000356164.4:p.Gly308ArgfsTer?
ENST00000427721.3:c.452_453del
ENST00000429746.2:c.922_923del	ENSP00000402586.2:p.Gly308ArgfsTer?
ENST00000433655.6:c.*193_*194del	ENSP00000404902.1:n.*193_*194del
ENST00000438213.6:c.1144_1145del	ENSP00000415036.2:p.Gly382ArgfsTer?
ENST00000497544.3:n.735_736del
ENST00000636397.1:c.1027_1028del	ENSP00000489910.1:p.Gly343ArgfsTer?
ENST00000636571.1:c.1006_1007del	ENSP00000490770.1:p.Gly336ArgfsTer?
ENST00000636579.1:c.28_29del	ENSP00000490489.1:p.Gly10ArgfsTer23
ENST00000636615.1:c.1027_1028del	ENSP00000490014.1:p.Gly343ArgfsTer?
ENST00000636843.1:c.1021_1022del	ENSP00000490897.1:p.Gly341ArgfsTer?
ENST00000637158.1:n.625_626del
ENST00000637381.2:n.3455_3456del
ENST00000637387.1:c.1006_1007del	ENSP00000490598.1:p.Gly336ArgfsTer?
ENST00000637815.2:c.1009_1010del	ENSP00000490344.1:p.Gly337ArgfsTer?
ENST00000637915.1:c.1027_1028del	ENSP00000490471.1:p.Gly343ArgfsTer?
ENST00000637937.1:n.335_336del
ENST00000678991.1:c.*888_*889del	ENSP00000503019.1:n.*888_*889del
ENST00000236671.6:c.1027_1028del	ENSP00000236671.2:p.Gly343ArgfsTer?
ENST00000427721.2:c.427_428del	ENSP00000415840.2:p.Gly143ArgfsTer?
ENST00000429746.1:c.358_359del	ENSP00000402586.1:p.Gly120ArgfsTer?
ENST00000433655.5:c.*193_*194del	ENSP00000404902.1:n.*193_*194del
ENST00000497544.1:n.735_736del
NM_001909.4:c.1027_1028del	NP_001900.1:p.Gly343ArgfsTer?
NM_001909.5:c.1027_1028del MANE Select	NP_001900.1:p.Gly343ArgfsTer?