Canonical Allele Identifier: CA2611928219

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754026-C-CCTTCTGCAGCTCGCGCACCTCATCCACCGGGCCCACCATGAGGGAAGTGCCTGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754028_1754083dup , CM000673.2:g.1754028_1754083dup	GRCh38
NC_000011.9:g.1775258_1775313dup , CM000673.1:g.1775258_1775313dup	GRCh37
NC_000011.8:g.1731834_1731889dup	NCBI36
NG_008655.1:g.14911_14966dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.884_939dup MANE Select	ENSP00000236671.2:p.Ala314ThrfsTer26
ENST00000367196.4:c.779_834dup	ENSP00000356164.4:p.Ala279ThrfsTer26
ENST00000427721.3:c.309_364dup
ENST00000429746.2:c.779_834dup	ENSP00000402586.2:p.Ala279ThrfsTer26
ENST00000433655.6:c.*50_*105dup	ENSP00000404902.1:n.*50_*105dup
ENST00000438213.6:c.1001_1056dup	ENSP00000415036.2:p.Ala353ThrfsTer26
ENST00000497544.3:n.500_555dup
ENST00000636397.1:c.884_939dup	ENSP00000489910.1:p.Ala314ThrfsTer26
ENST00000636571.1:c.863_918dup	ENSP00000490770.1:p.Ala307ThrfsTer26
ENST00000636615.1:c.884_939dup	ENSP00000490014.1:p.Ala314ThrfsTer26
ENST00000636843.1:c.878_933dup	ENSP00000490897.1:p.Ala312ThrfsTer26
ENST00000637158.1:n.482_537dup
ENST00000637381.2:n.3312_3367dup
ENST00000637387.1:c.884_939dup	ENSP00000490598.1:p.Ala314ThrfsTer26
ENST00000637815.2:c.866_921dup	ENSP00000490344.1:p.Ala308ThrfsTer26
ENST00000637915.1:c.884_939dup	ENSP00000490471.1:p.Ala314ThrfsTer26
ENST00000637937.1:n.192_247dup
ENST00000678991.1:c.*745_*800dup	ENSP00000503019.1:n.*745_*800dup
ENST00000236671.6:c.884_939dup	ENSP00000236671.2:p.Ala314ThrfsTer26
ENST00000427721.2:c.284_339dup	ENSP00000415840.2:p.Ala114ThrfsTer26
ENST00000429746.1:c.215_270dup	ENSP00000402586.1:p.Ala91ThrfsTer26
ENST00000433655.5:c.*50_*105dup	ENSP00000404902.1:n.*50_*105dup
ENST00000438213.5:c.839_894dup	ENSP00000415036.1:p.Ala299ThrfsTer?
ENST00000497544.1:n.500_555dup
NM_001909.4:c.884_939dup	NP_001900.1:p.Ala314ThrfsTer26
NM_001909.5:c.884_939dup MANE Select	NP_001900.1:p.Ala314ThrfsTer26