Canonical Allele Identifier: CA2611927895

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753957-G-GCCAGCCCCAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753972_1753983dup , CM000673.2:g.1753972_1753983dup	GRCh38
NC_000011.9:g.1775202_1775213dup , CM000673.1:g.1775202_1775213dup	GRCh37
NC_000011.8:g.1731778_1731789dup	NCBI36
NG_008655.1:g.15024_15035dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+25_972+36dup MANE Select	ENSP00000236671.2:n.972+25_972+36dup
ENST00000367196.4:c.867+25_867+36dup	ENSP00000356164.4:n.867+25_867+36dup
ENST00000427721.3:c.397+25_397+36dup
ENST00000429746.2:c.867+25_867+36dup	ENSP00000402586.2:n.867+25_867+36dup
ENST00000433655.6:c.*138+25_*138+36dup	ENSP00000404902.1:n.*138+25_*138+36dup
ENST00000438213.6:c.1089+25_1089+36dup	ENSP00000415036.2:n.1089+25_1089+36dup
ENST00000497544.3:n.613_624dup
ENST00000636397.1:c.972+25_972+36dup	ENSP00000489910.1:n.972+25_972+36dup
ENST00000636571.1:c.951+25_951+36dup	ENSP00000490770.1:n.951+25_951+36dup
ENST00000636615.1:c.972+25_972+36dup	ENSP00000490014.1:n.972+25_972+36dup
ENST00000636843.1:c.966+25_966+36dup	ENSP00000490897.1:n.966+25_966+36dup
ENST00000637158.1:n.570+25_570+36dup
ENST00000637381.2:n.3400+25_3400+36dup
ENST00000637387.1:c.972+25_972+36dup	ENSP00000490598.1:n.972+25_972+36dup
ENST00000637815.2:c.954+25_954+36dup	ENSP00000490344.1:n.954+25_954+36dup
ENST00000637915.1:c.972+25_972+36dup	ENSP00000490471.1:n.972+25_972+36dup
ENST00000637937.1:n.280+25_280+36dup
ENST00000678991.1:c.*833+25_*833+36dup	ENSP00000503019.1:n.*833+25_*833+36dup
ENST00000236671.6:c.972+25_972+36dup	ENSP00000236671.2:n.972+25_972+36dup
ENST00000427721.2:c.372+25_372+36dup	ENSP00000415840.2:n.372+25_372+36dup
ENST00000429746.1:c.303+25_303+36dup	ENSP00000402586.1:n.303+25_303+36dup
ENST00000433655.5:c.*138+25_*138+36dup	ENSP00000404902.1:n.*138+25_*138+36dup
ENST00000497544.1:n.613_624dup
NM_001909.4:c.972+25_972+36dup	NP_001900.1:n.972+25_972+36dup
NM_001909.5:c.972+25_972+36dup MANE Select	NP_001900.1:n.972+25_972+36dup