Canonical Allele Identifier: CA674232559

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1497159
• ClinVar RCV Id: RCV002019756
• dbSNP Id: rs1386489811
• gnomAD v4: 11-1753988-G-GCT
• MyVariant Identifiers: chr11:g.1775218_1775219insCT (hg19) ; chr11:g.1753988_1753989insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753990_1753991dup , CM000673.2:g.1753990_1753991dup	GRCh38
NC_000011.9:g.1775220_1775221dup , CM000673.1:g.1775220_1775221dup	GRCh37
NC_000011.8:g.1731796_1731797dup	NCBI36
NG_008655.1:g.15003_15004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+4_972+5dup MANE Select	ENSP00000236671.2:n.972+4_972+5dup
ENST00000367196.4:c.867+4_867+5dup	ENSP00000356164.4:n.867+4_867+5dup
ENST00000427721.3:c.397+4_397+5dup
ENST00000429746.2:c.867+4_867+5dup	ENSP00000402586.2:n.867+4_867+5dup
ENST00000433655.6:c.*138+4_*138+5dup	ENSP00000404902.1:n.*138+4_*138+5dup
ENST00000438213.6:c.1089+4_1089+5dup	ENSP00000415036.2:n.1089+4_1089+5dup
ENST00000497544.3:n.592_593dup
ENST00000636397.1:c.972+4_972+5dup	ENSP00000489910.1:n.972+4_972+5dup
ENST00000636571.1:c.951+4_951+5dup	ENSP00000490770.1:n.951+4_951+5dup
ENST00000636615.1:c.972+4_972+5dup	ENSP00000490014.1:n.972+4_972+5dup
ENST00000636843.1:c.966+4_966+5dup	ENSP00000490897.1:n.966+4_966+5dup
ENST00000637158.1:n.570+4_570+5dup
ENST00000637381.2:n.3400+4_3400+5dup
ENST00000637387.1:c.972+4_972+5dup	ENSP00000490598.1:n.972+4_972+5dup
ENST00000637815.2:c.954+4_954+5dup	ENSP00000490344.1:n.954+4_954+5dup
ENST00000637915.1:c.972+4_972+5dup	ENSP00000490471.1:n.972+4_972+5dup
ENST00000637937.1:n.280+4_280+5dup
ENST00000678991.1:c.*833+4_*833+5dup	ENSP00000503019.1:n.*833+4_*833+5dup
ENST00000236671.6:c.972+4_972+5dup	ENSP00000236671.2:n.972+4_972+5dup
ENST00000427721.2:c.372+4_372+5dup	ENSP00000415840.2:n.372+4_372+5dup
ENST00000429746.1:c.303+4_303+5dup	ENSP00000402586.1:n.303+4_303+5dup
ENST00000433655.5:c.*138+4_*138+5dup	ENSP00000404902.1:n.*138+4_*138+5dup
ENST00000497544.1:n.592_593dup
NM_001909.4:c.972+4_972+5dup	NP_001900.1:n.972+4_972+5dup
NM_001909.5:c.972+4_972+5dup MANE Select	NP_001900.1:n.972+4_972+5dup