Canonical Allele Identifier: CA597430544

Gene: CTSD

Linked Data

• dbSNP Id: rs1377217232
• gnomAD v2: 11-1774859-C-CG
• MyVariant Identifiers: chr11:g.1774859_1774860insG (hg19) ; chr11:g.1753629_1753630insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753629_1753630insG , CM000673.2:g.1753629_1753630insG	GRCh38
NC_000011.9:g.1774859_1774860insG , CM000673.1:g.1774859_1774860insG	GRCh37
NC_000011.8:g.1731435_1731436insG	NCBI36
NG_008655.1:g.15363_15364insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1112_1113insC MANE Select	ENSP00000236671.2:p.Met371IlefsTer28
ENST00000367196.4:c.1007_1008insC	ENSP00000356164.4:p.Met336IlefsTer28
ENST00000427721.3:c.537_538insC
ENST00000429746.2:c.1007_1008insC	ENSP00000402586.2:p.Met336IlefsTer28
ENST00000433655.6:c.*278_*279insC	ENSP00000404902.1:n.*278_*279insC
ENST00000438213.6:c.1229_1230insC	ENSP00000415036.2:p.Met410IlefsTer28
ENST00000636397.1:c.1071+173_1071+174insC	ENSP00000489910.1:n.1071+173_1071+174insC
ENST00000636571.1:c.1091_1092insC	ENSP00000490770.1:p.Met364IlefsTer28
ENST00000636579.1:c.72+173_72+174insC	ENSP00000490489.1:n.72+173_72+174insC
ENST00000636615.1:c.1071+173_1071+174insC	ENSP00000490014.1:n.1071+173_1071+174insC
ENST00000636843.1:c.1106_1107insC	ENSP00000490897.1:p.Met369IlefsTer28
ENST00000637158.1:n.710_711insC
ENST00000637381.2:n.3540_3541insC
ENST00000637387.1:c.1091_1092insC	ENSP00000490598.1:p.Met364IlefsTer28
ENST00000637815.2:c.1094_1095insC	ENSP00000490344.1:p.Met365IlefsTer28
ENST00000637915.1:c.1103_1104insC	ENSP00000490471.1:p.Met368IlefsTer28
ENST00000637937.1:n.420_421insC
ENST00000678991.1:c.*973_*974insC	ENSP00000503019.1:n.*973_*974insC
ENST00000236671.6:c.1112_1113insC	ENSP00000236671.2:p.Met371IlefsTer28
ENST00000427721.2:c.471+173_471+174insC	ENSP00000415840.2:n.471+173_471+174insC
ENST00000429746.1:c.443_444insC	ENSP00000402586.1:p.Met148IlefsTer28
ENST00000433655.5:c.*278_*279insC	ENSP00000404902.1:n.*278_*279insC
NM_001909.4:c.1112_1113insC	NP_001900.1:p.Met371IlefsTer28
NM_001909.5:c.1112_1113insC MANE Select	NP_001900.1:p.Met371IlefsTer28