Canonical Allele Identifier: CA2611927120

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753640-T-TCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753644_1753647dup , CM000673.2:g.1753644_1753647dup	GRCh38
NC_000011.9:g.1774874_1774877dup , CM000673.1:g.1774874_1774877dup	GRCh37
NC_000011.8:g.1731450_1731453dup	NCBI36
NG_008655.1:g.15349_15352dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1098_1101dup MANE Select	ENSP00000236671.2:p.Ser368ProfsTer?
ENST00000367196.4:c.993_996dup	ENSP00000356164.4:p.Ser333ProfsTer?
ENST00000427721.3:c.523_526dup
ENST00000429746.2:c.993_996dup	ENSP00000402586.2:p.Ser333ProfsTer?
ENST00000433655.6:c.*264_*267dup	ENSP00000404902.1:n.*264_*267dup
ENST00000438213.6:c.1215_1218dup	ENSP00000415036.2:p.Ser407ProfsTer?
ENST00000636397.1:c.1071+159_1071+162dup	ENSP00000489910.1:n.1071+159_1071+162dup
ENST00000636571.1:c.1077_1080dup	ENSP00000490770.1:p.Ser361ProfsTer?
ENST00000636579.1:c.72+159_72+162dup	ENSP00000490489.1:n.72+159_72+162dup
ENST00000636615.1:c.1071+159_1071+162dup	ENSP00000490014.1:n.1071+159_1071+162dup
ENST00000636843.1:c.1092_1095dup	ENSP00000490897.1:p.Ser366ProfsTer?
ENST00000637158.1:n.696_699dup
ENST00000637381.2:n.3526_3529dup
ENST00000637387.1:c.1077_1080dup	ENSP00000490598.1:p.Ser361ProfsTer?
ENST00000637815.2:c.1080_1083dup	ENSP00000490344.1:p.Ser362ProfsTer?
ENST00000637915.1:c.1089_1092dup	ENSP00000490471.1:p.Ser365ProfsTer?
ENST00000637937.1:n.406_409dup
ENST00000678991.1:c.*959_*962dup	ENSP00000503019.1:n.*959_*962dup
ENST00000236671.6:c.1098_1101dup	ENSP00000236671.2:p.Ser368ProfsTer?
ENST00000427721.2:c.471+159_471+162dup	ENSP00000415840.2:n.471+159_471+162dup
ENST00000429746.1:c.429_432dup	ENSP00000402586.1:p.Ser145ProfsTer?
ENST00000433655.5:c.*264_*267dup	ENSP00000404902.1:n.*264_*267dup
NM_001909.4:c.1098_1101dup	NP_001900.1:p.Ser368ProfsTer?
NM_001909.5:c.1098_1101dup MANE Select	NP_001900.1:p.Ser368ProfsTer?