Canonical Allele Identifier: CA1947827498

Gene: CTSD

Linked Data

• dbSNP Id: rs1845820088

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757202_1757226del , CM000673.2:g.1757202_1757226del	GRCh38
NC_000011.9:g.1778432_1778456del , CM000673.1:g.1778432_1778456del	GRCh37
NC_000011.8:g.1735008_1735032del	NCBI36
NG_008655.1:g.11770_11794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.704+101_704+125del MANE Select	ENSP00000236671.2:n.704+101_704+125del
ENST00000367196.4:c.599+101_599+125del	ENSP00000356164.4:n.599+101_599+125del
ENST00000427721.3:c.129+101_129+125del
ENST00000429746.2:c.599+101_599+125del	ENSP00000402586.2:n.599+101_599+125del
ENST00000433655.6:c.704+101_704+125del	ENSP00000404902.1:n.704+101_704+125del
ENST00000438213.6:c.704+101_704+125del	ENSP00000415036.2:n.704+101_704+125del
ENST00000636397.1:c.704+101_704+125del	ENSP00000489910.1:n.704+101_704+125del
ENST00000636571.1:c.683+101_683+125del	ENSP00000490770.1:n.683+101_683+125del
ENST00000636615.1:c.704+101_704+125del	ENSP00000490014.1:n.704+101_704+125del
ENST00000636843.1:c.698+101_698+125del	ENSP00000490897.1:n.698+101_698+125del
ENST00000637158.1:n.302+101_302+125del
ENST00000637381.2:n.3132+101_3132+125del
ENST00000637387.1:c.704+101_704+125del	ENSP00000490598.1:n.704+101_704+125del
ENST00000637815.2:c.704+101_704+125del	ENSP00000490344.1:n.704+101_704+125del
ENST00000637915.1:c.704+101_704+125del	ENSP00000490471.1:n.704+101_704+125del
ENST00000678991.1:c.*565+101_*565+125del	ENSP00000503019.1:n.*565+101_*565+125del
ENST00000236671.6:c.704+101_704+125del	ENSP00000236671.2:n.704+101_704+125del
ENST00000427721.2:c.104+101_104+125del	ENSP00000415840.2:n.104+101_104+125del
ENST00000433655.5:c.704+101_704+125del	ENSP00000404902.1:n.704+101_704+125del
ENST00000438213.5:c.659+101_659+125del	ENSP00000415036.1:n.659+101_659+125del
NM_001909.4:c.704+101_704+125del	NP_001900.1:n.704+101_704+125del
NM_001909.5:c.704+101_704+125del MANE Select	NP_001900.1:n.704+101_704+125del