Canonical Allele Identifier: CA314307

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754151_1754152del , CM000673.2:g.1754151_1754152del	GRCh38
NC_000011.9:g.1775381_1775382del , CM000673.1:g.1775381_1775382del	GRCh37
NC_000011.8:g.1731957_1731958del	NCBI36
NG_008655.1:g.14841_14842del

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.828-14_828-13del MANE Select	NP_001900.1:n.828-14_828-13del
ENST00000236671.7:c.828-14_828-13del MANE Select	ENSP00000236671.2:n.828-14_828-13del
NM_001909.4:c.828-14_828-13del	NP_001900.1:n.828-14_828-13del
ENST00000236671.6:c.828-14_828-13del	ENSP00000236671.2:n.828-14_828-13del
ENST00000367196.4:c.723-14_723-13del	ENSP00000356164.4:n.723-14_723-13del
ENST00000427721.2:c.228-14_228-13del	ENSP00000415840.2:n.228-14_228-13del
ENST00000427721.3:c.253-14_253-13del
ENST00000429746.1:c.145_146del	ENSP00000402586.1:p.Leu49AspfsTer19
ENST00000429746.2:c.723-14_723-13del	ENSP00000402586.2:n.723-14_723-13del
ENST00000433655.5:c.*1-21_*1-20del	ENSP00000404902.1:n.*1-21_*1-20del
ENST00000433655.6:c.*1-21_*1-20del	ENSP00000404902.1:n.*1-21_*1-20del
ENST00000438213.5:c.783-14_783-13del	ENSP00000415036.1:n.783-14_783-13del
ENST00000438213.6:c.931_932del	ENSP00000415036.2:p.Leu311AspfsTer19
ENST00000497544.1:n.444-14_444-13del
ENST00000497544.3:n.444-14_444-13del
ENST00000636397.1:c.828-14_828-13del	ENSP00000489910.1:n.828-14_828-13del
ENST00000636571.1:c.807-14_807-13del	ENSP00000490770.1:n.807-14_807-13del
ENST00000636615.1:c.828-14_828-13del	ENSP00000490014.1:n.828-14_828-13del
ENST00000636843.1:c.822-14_822-13del	ENSP00000490897.1:n.822-14_822-13del
ENST00000637158.1:n.426-14_426-13del
ENST00000637381.2:n.3256-14_3256-13del
ENST00000637387.1:c.828-14_828-13del	ENSP00000490598.1:n.828-14_828-13del
ENST00000637815.2:c.810-14_810-13del	ENSP00000490344.1:n.810-14_810-13del
ENST00000637915.1:c.828-14_828-13del	ENSP00000490471.1:n.828-14_828-13del
ENST00000637937.1:n.136-14_136-13del
ENST00000678991.1:c.*689-14_*689-13del	ENSP00000503019.1:n.*689-14_*689-13del