Canonical Allele Identifier: CA2611927959

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753970-CCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753972_1753974del , CM000673.2:g.1753972_1753974del	GRCh38
NC_000011.9:g.1775202_1775204del , CM000673.1:g.1775202_1775204del	GRCh37
NC_000011.8:g.1731778_1731780del	NCBI36
NG_008655.1:g.15020_15022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+21_972+23del MANE Select	ENSP00000236671.2:n.972+21_972+23del
ENST00000367196.4:c.867+21_867+23del	ENSP00000356164.4:n.867+21_867+23del
ENST00000427721.3:c.397+21_397+23del
ENST00000429746.2:c.867+21_867+23del	ENSP00000402586.2:n.867+21_867+23del
ENST00000433655.6:c.*138+21_*138+23del	ENSP00000404902.1:n.*138+21_*138+23del
ENST00000438213.6:c.1089+21_1089+23del	ENSP00000415036.2:n.1089+21_1089+23del
ENST00000497544.3:n.609_611del
ENST00000636397.1:c.972+21_972+23del	ENSP00000489910.1:n.972+21_972+23del
ENST00000636571.1:c.951+21_951+23del	ENSP00000490770.1:n.951+21_951+23del
ENST00000636615.1:c.972+21_972+23del	ENSP00000490014.1:n.972+21_972+23del
ENST00000636843.1:c.966+21_966+23del	ENSP00000490897.1:n.966+21_966+23del
ENST00000637158.1:n.570+21_570+23del
ENST00000637381.2:n.3400+21_3400+23del
ENST00000637387.1:c.972+21_972+23del	ENSP00000490598.1:n.972+21_972+23del
ENST00000637815.2:c.954+21_954+23del	ENSP00000490344.1:n.954+21_954+23del
ENST00000637915.1:c.972+21_972+23del	ENSP00000490471.1:n.972+21_972+23del
ENST00000637937.1:n.280+21_280+23del
ENST00000678991.1:c.*833+21_*833+23del	ENSP00000503019.1:n.*833+21_*833+23del
ENST00000236671.6:c.972+21_972+23del	ENSP00000236671.2:n.972+21_972+23del
ENST00000427721.2:c.372+21_372+23del	ENSP00000415840.2:n.372+21_372+23del
ENST00000429746.1:c.303+21_303+23del	ENSP00000402586.1:n.303+21_303+23del
ENST00000433655.5:c.*138+21_*138+23del	ENSP00000404902.1:n.*138+21_*138+23del
ENST00000497544.1:n.609_611del
NM_001909.4:c.972+21_972+23del	NP_001900.1:n.972+21_972+23del
NM_001909.5:c.972+21_972+23del MANE Select	NP_001900.1:n.972+21_972+23del