Canonical Allele Identifier: CA2611926695

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753397-T-TGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753403_1753406dup , CM000673.2:g.1753403_1753406dup	GRCh38
NC_000011.9:g.1774633_1774636dup , CM000673.1:g.1774633_1774636dup	GRCh37
NC_000011.8:g.1731209_1731212dup	NCBI36
NG_008655.1:g.15592_15595dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*102_*105dup MANE Select	ENSP00000236671.2:n.*102_*105dup
ENST00000367196.4:c.*102_*105dup	ENSP00000356164.4:n.*102_*105dup
ENST00000427721.3:c.634+132_634+135dup
ENST00000429746.2:c.*102_*105dup	ENSP00000402586.2:n.*102_*105dup
ENST00000433655.6:c.*507_*510dup	ENSP00000404902.1:n.*507_*510dup
ENST00000438213.6:c.*102_*105dup	ENSP00000415036.2:n.*102_*105dup
ENST00000636397.1:c.1071+402_1071+405dup	ENSP00000489910.1:n.1071+402_1071+405dup
ENST00000636571.1:c.*102_*105dup	ENSP00000490770.1:n.*102_*105dup
ENST00000636579.1:c.72+402_72+405dup	ENSP00000490489.1:n.72+402_72+405dup
ENST00000636615.1:c.1071+402_1071+405dup	ENSP00000490014.1:n.1071+402_1071+405dup
ENST00000636843.1:c.*102_*105dup	ENSP00000490897.1:n.*102_*105dup
ENST00000637158.1:n.939_942dup
ENST00000637381.2:n.3769_3772dup
ENST00000637387.1:c.*102_*105dup	ENSP00000490598.1:n.*102_*105dup
ENST00000637815.2:c.*102_*105dup	ENSP00000490344.1:n.*102_*105dup
ENST00000637915.1:c.*102_*105dup	ENSP00000490471.1:n.*102_*105dup
ENST00000637937.1:n.649_652dup
ENST00000678991.1:c.*1202_*1205dup	ENSP00000503019.1:n.*1202_*1205dup
ENST00000236671.6:c.*102_*105dup	ENSP00000236671.2:n.*102_*105dup
ENST00000427721.2:c.471+402_471+405dup	ENSP00000415840.2:n.471+402_471+405dup
ENST00000429746.1:c.672_675dup	ENSP00000402586.1:n.672_675dup
ENST00000433655.5:c.*507_*510dup	ENSP00000404902.1:n.*507_*510dup
NM_001909.4:c.*102_*105dup	NP_001900.1:n.*102_*105dup
NM_001909.5:c.*102_*105dup MANE Select	NP_001900.1:n.*102_*105dup