Canonical Allele Identifier: CA2611927955

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753967-G-GCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753968_1753972dup , CM000673.2:g.1753968_1753972dup	GRCh38
NC_000011.9:g.1775198_1775202dup , CM000673.1:g.1775198_1775202dup	GRCh37
NC_000011.8:g.1731774_1731778dup	NCBI36
NG_008655.1:g.15021_15025dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+22_972+26dup MANE Select	ENSP00000236671.2:n.972+22_972+26dup
ENST00000367196.4:c.867+22_867+26dup	ENSP00000356164.4:n.867+22_867+26dup
ENST00000427721.3:c.397+22_397+26dup
ENST00000429746.2:c.867+22_867+26dup	ENSP00000402586.2:n.867+22_867+26dup
ENST00000433655.6:c.*138+22_*138+26dup	ENSP00000404902.1:n.*138+22_*138+26dup
ENST00000438213.6:c.1089+22_1089+26dup	ENSP00000415036.2:n.1089+22_1089+26dup
ENST00000497544.3:n.610_614dup
ENST00000636397.1:c.972+22_972+26dup	ENSP00000489910.1:n.972+22_972+26dup
ENST00000636571.1:c.951+22_951+26dup	ENSP00000490770.1:n.951+22_951+26dup
ENST00000636615.1:c.972+22_972+26dup	ENSP00000490014.1:n.972+22_972+26dup
ENST00000636843.1:c.966+22_966+26dup	ENSP00000490897.1:n.966+22_966+26dup
ENST00000637158.1:n.570+22_570+26dup
ENST00000637381.2:n.3400+22_3400+26dup
ENST00000637387.1:c.972+22_972+26dup	ENSP00000490598.1:n.972+22_972+26dup
ENST00000637815.2:c.954+22_954+26dup	ENSP00000490344.1:n.954+22_954+26dup
ENST00000637915.1:c.972+22_972+26dup	ENSP00000490471.1:n.972+22_972+26dup
ENST00000637937.1:n.280+22_280+26dup
ENST00000678991.1:c.*833+22_*833+26dup	ENSP00000503019.1:n.*833+22_*833+26dup
ENST00000236671.6:c.972+22_972+26dup	ENSP00000236671.2:n.972+22_972+26dup
ENST00000427721.2:c.372+22_372+26dup	ENSP00000415840.2:n.372+22_372+26dup
ENST00000429746.1:c.303+22_303+26dup	ENSP00000402586.1:n.303+22_303+26dup
ENST00000433655.5:c.*138+22_*138+26dup	ENSP00000404902.1:n.*138+22_*138+26dup
ENST00000497544.1:n.610_614dup
NM_001909.4:c.972+22_972+26dup	NP_001900.1:n.972+22_972+26dup
NM_001909.5:c.972+22_972+26dup MANE Select	NP_001900.1:n.972+22_972+26dup