Canonical Allele Identifier: CA2611927967

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753971-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753972_1753973del , CM000673.2:g.1753972_1753973del	GRCh38
NC_000011.9:g.1775202_1775203del , CM000673.1:g.1775202_1775203del	GRCh37
NC_000011.8:g.1731778_1731779del	NCBI36
NG_008655.1:g.15020_15021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+21_972+22del MANE Select	ENSP00000236671.2:n.972+21_972+22del
ENST00000367196.4:c.867+21_867+22del	ENSP00000356164.4:n.867+21_867+22del
ENST00000427721.3:c.397+21_397+22del
ENST00000429746.2:c.867+21_867+22del	ENSP00000402586.2:n.867+21_867+22del
ENST00000433655.6:c.*138+21_*138+22del	ENSP00000404902.1:n.*138+21_*138+22del
ENST00000438213.6:c.1089+21_1089+22del	ENSP00000415036.2:n.1089+21_1089+22del
ENST00000497544.3:n.609_610del
ENST00000636397.1:c.972+21_972+22del	ENSP00000489910.1:n.972+21_972+22del
ENST00000636571.1:c.951+21_951+22del	ENSP00000490770.1:n.951+21_951+22del
ENST00000636615.1:c.972+21_972+22del	ENSP00000490014.1:n.972+21_972+22del
ENST00000636843.1:c.966+21_966+22del	ENSP00000490897.1:n.966+21_966+22del
ENST00000637158.1:n.570+21_570+22del
ENST00000637381.2:n.3400+21_3400+22del
ENST00000637387.1:c.972+21_972+22del	ENSP00000490598.1:n.972+21_972+22del
ENST00000637815.2:c.954+21_954+22del	ENSP00000490344.1:n.954+21_954+22del
ENST00000637915.1:c.972+21_972+22del	ENSP00000490471.1:n.972+21_972+22del
ENST00000637937.1:n.280+21_280+22del
ENST00000678991.1:c.*833+21_*833+22del	ENSP00000503019.1:n.*833+21_*833+22del
ENST00000236671.6:c.972+21_972+22del	ENSP00000236671.2:n.972+21_972+22del
ENST00000427721.2:c.372+21_372+22del	ENSP00000415840.2:n.372+21_372+22del
ENST00000429746.1:c.303+21_303+22del	ENSP00000402586.1:n.303+21_303+22del
ENST00000433655.5:c.*138+21_*138+22del	ENSP00000404902.1:n.*138+21_*138+22del
ENST00000497544.1:n.609_610del
NM_001909.4:c.972+21_972+22del	NP_001900.1:n.972+21_972+22del
NM_001909.5:c.972+21_972+22del MANE Select	NP_001900.1:n.972+21_972+22del