Canonical Allele Identifier: CA1947825046

Gene: CTSD

Linked Data

• dbSNP Id: rs1845752294
• gnomAD v4: 11-1753444-GGGCCTCCTGCTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753447_1753459del , CM000673.2:g.1753447_1753459del	GRCh38
NC_000011.9:g.1774677_1774689del , CM000673.1:g.1774677_1774689del	GRCh37
NC_000011.8:g.1731253_1731265del	NCBI36
NG_008655.1:g.15536_15548del

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*46_*58del MANE Select	ENSP00000236671.2:n.*46_*58del
ENST00000367196.4:c.*46_*58del	ENSP00000356164.4:n.*46_*58del
ENST00000427721.3:c.634+76_634+88del
ENST00000429746.2:c.*46_*58del	ENSP00000402586.2:n.*46_*58del
ENST00000433655.6:c.*451_*463del	ENSP00000404902.1:n.*451_*463del
ENST00000438213.6:c.*46_*58del	ENSP00000415036.2:n.*46_*58del
ENST00000636397.1:c.1071+346_1071+358del	ENSP00000489910.1:n.1071+346_1071+358del
ENST00000636571.1:c.*46_*58del	ENSP00000490770.1:n.*46_*58del
ENST00000636579.1:c.72+346_72+358del	ENSP00000490489.1:n.72+346_72+358del
ENST00000636615.1:c.1071+346_1071+358del	ENSP00000490014.1:n.1071+346_1071+358del
ENST00000636843.1:c.*46_*58del	ENSP00000490897.1:n.*46_*58del
ENST00000637158.1:n.883_895del
ENST00000637381.2:n.3713_3725del
ENST00000637387.1:c.*46_*58del	ENSP00000490598.1:n.*46_*58del
ENST00000637815.2:c.*46_*58del	ENSP00000490344.1:n.*46_*58del
ENST00000637915.1:c.*46_*58del	ENSP00000490471.1:n.*46_*58del
ENST00000637937.1:n.593_605del
ENST00000678991.1:c.*1146_*1158del	ENSP00000503019.1:n.*1146_*1158del
ENST00000236671.6:c.*46_*58del	ENSP00000236671.2:n.*46_*58del
ENST00000427721.2:c.471+346_471+358del	ENSP00000415840.2:n.471+346_471+358del
ENST00000429746.1:c.616_628del	ENSP00000402586.1:n.616_628del
ENST00000433655.5:c.*451_*463del	ENSP00000404902.1:n.*451_*463del
NM_001909.4:c.*46_*58del	NP_001900.1:n.*46_*58del
NM_001909.5:c.*46_*58del MANE Select	NP_001900.1:n.*46_*58del