Canonical Allele Identifier: CA1947825385

Gene: CTSD

Linked Data

• dbSNP Id: rs1845763158

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754021dup , CM000673.2:g.1754021dup	GRCh38
NC_000011.9:g.1775251dup , CM000673.1:g.1775251dup	GRCh37
NC_000011.8:g.1731827dup	NCBI36
NG_008655.1:g.14972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.945dup MANE Select	ENSP00000236671.2:p.Gly316ArgfsTer15
ENST00000367196.4:c.840dup	ENSP00000356164.4:p.Gly281ArgfsTer15
ENST00000427721.3:c.370dup
ENST00000429746.2:c.840dup	ENSP00000402586.2:p.Gly281ArgfsTer15
ENST00000433655.6:c.*111dup	ENSP00000404902.1:n.*111dup
ENST00000438213.6:c.1062dup	ENSP00000415036.2:p.Gly355ArgfsTer15
ENST00000497544.3:n.561dup
ENST00000636397.1:c.945dup	ENSP00000489910.1:p.Gly316ArgfsTer15
ENST00000636571.1:c.924dup	ENSP00000490770.1:p.Gly309ArgfsTer15
ENST00000636615.1:c.945dup	ENSP00000490014.1:p.Gly316ArgfsTer15
ENST00000636843.1:c.939dup	ENSP00000490897.1:p.Gly314ArgfsTer15
ENST00000637158.1:n.543dup
ENST00000637381.2:n.3373dup
ENST00000637387.1:c.945dup	ENSP00000490598.1:p.Gly316ArgfsTer?
ENST00000637815.2:c.927dup	ENSP00000490344.1:p.Gly310ArgfsTer15
ENST00000637915.1:c.945dup	ENSP00000490471.1:p.Gly316ArgfsTer15
ENST00000637937.1:n.253dup
ENST00000678991.1:c.*806dup	ENSP00000503019.1:n.*806dup
ENST00000236671.6:c.945dup	ENSP00000236671.2:p.Gly316ArgfsTer15
ENST00000427721.2:c.345dup	ENSP00000415840.2:p.Gly116ArgfsTer15
ENST00000429746.1:c.276dup	ENSP00000402586.1:p.Gly93ArgfsTer15
ENST00000433655.5:c.*111dup	ENSP00000404902.1:n.*111dup
ENST00000497544.1:n.561dup
NM_001909.4:c.945dup	NP_001900.1:p.Gly316ArgfsTer15
NM_001909.5:c.945dup MANE Select	NP_001900.1:p.Gly316ArgfsTer15