Canonical Allele Identifier: CA2611928160

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754012-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754013dup , CM000673.2:g.1754013dup	GRCh38
NC_000011.9:g.1775243dup , CM000673.1:g.1775243dup	GRCh37
NC_000011.8:g.1731819dup	NCBI36
NG_008655.1:g.14980dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.953dup MANE Select	ENSP00000236671.2:p.Pro319AlafsTer12
ENST00000367196.4:c.848dup	ENSP00000356164.4:p.Pro284AlafsTer12
ENST00000427721.3:c.378dup
ENST00000429746.2:c.848dup	ENSP00000402586.2:p.Pro284AlafsTer12
ENST00000433655.6:c.*119dup	ENSP00000404902.1:n.*119dup
ENST00000438213.6:c.1070dup	ENSP00000415036.2:p.Pro358AlafsTer12
ENST00000497544.3:n.569dup
ENST00000636397.1:c.953dup	ENSP00000489910.1:p.Pro319AlafsTer12
ENST00000636571.1:c.932dup	ENSP00000490770.1:p.Pro312AlafsTer12
ENST00000636615.1:c.953dup	ENSP00000490014.1:p.Pro319AlafsTer12
ENST00000636843.1:c.947dup	ENSP00000490897.1:p.Pro317AlafsTer12
ENST00000637158.1:n.551dup
ENST00000637381.2:n.3381dup
ENST00000637387.1:c.953dup	ENSP00000490598.1:p.Pro319AlafsTer?
ENST00000637815.2:c.935dup	ENSP00000490344.1:p.Pro313AlafsTer12
ENST00000637915.1:c.953dup	ENSP00000490471.1:p.Pro319AlafsTer12
ENST00000637937.1:n.261dup
ENST00000678991.1:c.*814dup	ENSP00000503019.1:n.*814dup
ENST00000236671.6:c.953dup	ENSP00000236671.2:p.Pro319AlafsTer12
ENST00000427721.2:c.353dup	ENSP00000415840.2:p.Pro119AlafsTer12
ENST00000429746.1:c.284dup	ENSP00000402586.1:p.Pro96AlafsTer12
ENST00000433655.5:c.*119dup	ENSP00000404902.1:n.*119dup
ENST00000497544.1:n.569dup
NM_001909.4:c.953dup	NP_001900.1:p.Pro319AlafsTer12
NM_001909.5:c.953dup MANE Select	NP_001900.1:p.Pro319AlafsTer12