Canonical Allele Identifier: CA2739276113

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2819428
• ClinVar RCV Id: RCV003648245

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757323_1757353dup , CM000673.2:g.1757323_1757353dup	GRCh38
NC_000011.9:g.1778553_1778583dup , CM000673.1:g.1778553_1778583dup	GRCh37
NC_000011.8:g.1735129_1735159dup	NCBI36
NG_008655.1:g.11640_11670dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.675_704+1dup
ENST00000367196.4:c.570_599+1dup
ENST00000427721.3:c.100_129+1dup
ENST00000429746.2:c.570_599+1dup
ENST00000433655.6:c.675_704+1dup
ENST00000438213.6:c.675_704+1dup
ENST00000636397.1:c.675_704+1dup
ENST00000636571.1:c.654_683+1dup
ENST00000636615.1:c.675_704+1dup
ENST00000636843.1:c.669_698+1dup
ENST00000637158.1:n.273_302+1dup
ENST00000637381.2:n.3103_3132+1dup
ENST00000637387.1:c.675_704+1dup
ENST00000637815.2:c.675_704+1dup
ENST00000637915.1:c.675_704+1dup
ENST00000678991.1:c.*536_*565+1dup
ENST00000236671.6:c.675_704+1dup
ENST00000427721.2:c.75_104+1dup
ENST00000433655.5:c.675_704+1dup
ENST00000438213.5:c.630_659+1dup
NM_001909.4:c.675_704+1dup
NM_001909.5:c.675_704+1dup