Canonical Allele Identifier: CA1947828356

Gene: CTSD

Linked Data

• dbSNP Id: rs1845840229
• gnomAD v4: 11-1758854-AGGGCTGGGGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1758863_1758873del , CM000673.2:g.1758863_1758873del	GRCh38
NC_000011.9:g.1780093_1780103del , CM000673.1:g.1780093_1780103del	GRCh37
NC_000011.8:g.1736669_1736679del	NCBI36
NG_008655.1:g.10128_10138del

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.471+104_471+114del MANE Select	ENSP00000236671.2:n.471+104_471+114del
ENST00000367196.4:c.366+104_366+114del	ENSP00000356164.4:n.366+104_366+114del
ENST00000429746.2:c.366+104_366+114del	ENSP00000402586.2:n.366+104_366+114del
ENST00000433655.6:c.471+104_471+114del	ENSP00000404902.1:n.471+104_471+114del
ENST00000438213.6:c.471+104_471+114del	ENSP00000415036.2:n.471+104_471+114del
ENST00000636397.1:c.471+104_471+114del	ENSP00000489910.1:n.471+104_471+114del
ENST00000636571.1:c.450+104_450+114del	ENSP00000490770.1:n.450+104_450+114del
ENST00000636615.1:c.471+104_471+114del	ENSP00000490014.1:n.471+104_471+114del
ENST00000636843.1:c.465+104_465+114del	ENSP00000490897.1:n.465+104_465+114del
ENST00000637381.2:n.2899+104_2899+114del
ENST00000637387.1:c.471+104_471+114del	ENSP00000490598.1:n.471+104_471+114del
ENST00000637815.2:c.471+104_471+114del	ENSP00000490344.1:n.471+104_471+114del
ENST00000637915.1:c.471+104_471+114del	ENSP00000490471.1:n.471+104_471+114del
ENST00000677300.1:n.866+104_866+114del
ENST00000678991.1:c.*332+104_*332+114del	ENSP00000503019.1:n.*332+104_*332+114del
ENST00000236671.6:c.471+104_471+114del	ENSP00000236671.2:n.471+104_471+114del
ENST00000367196.3:c.366+104_366+114del	ENSP00000356164.3:n.366+104_366+114del
ENST00000427721.2:c.-130+104_-130+114del	ENSP00000415840.2:n.-130+104_-130+114del
ENST00000433655.5:c.471+104_471+114del	ENSP00000404902.1:n.471+104_471+114del
ENST00000438213.5:c.426+104_426+114del	ENSP00000415036.1:n.426+104_426+114del
NM_001909.4:c.471+104_471+114del	NP_001900.1:n.471+104_471+114del
NM_001909.5:c.471+104_471+114del MANE Select	NP_001900.1:n.471+104_471+114del