Canonical Allele Identifier: CA2611927868

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753953-CCCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753956_1753959del , CM000673.2:g.1753956_1753959del	GRCh38
NC_000011.9:g.1775186_1775189del , CM000673.1:g.1775186_1775189del	GRCh37
NC_000011.8:g.1731762_1731765del	NCBI36
NG_008655.1:g.15036_15039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+37_972+40del MANE Select	ENSP00000236671.2:n.972+37_972+40del
ENST00000367196.4:c.867+37_867+40del	ENSP00000356164.4:n.867+37_867+40del
ENST00000427721.3:c.397+37_397+40del
ENST00000429746.2:c.867+37_867+40del	ENSP00000402586.2:n.867+37_867+40del
ENST00000433655.6:c.*138+37_*138+40del	ENSP00000404902.1:n.*138+37_*138+40del
ENST00000438213.6:c.1089+37_1089+40del	ENSP00000415036.2:n.1089+37_1089+40del
ENST00000497544.3:n.625_628del
ENST00000636397.1:c.972+37_972+40del	ENSP00000489910.1:n.972+37_972+40del
ENST00000636571.1:c.951+37_951+40del	ENSP00000490770.1:n.951+37_951+40del
ENST00000636615.1:c.972+37_972+40del	ENSP00000490014.1:n.972+37_972+40del
ENST00000636843.1:c.966+37_966+40del	ENSP00000490897.1:n.966+37_966+40del
ENST00000637158.1:n.570+37_570+40del
ENST00000637381.2:n.3400+37_3400+40del
ENST00000637387.1:c.972+37_972+40del	ENSP00000490598.1:n.972+37_972+40del
ENST00000637815.2:c.954+37_954+40del	ENSP00000490344.1:n.954+37_954+40del
ENST00000637915.1:c.972+37_972+40del	ENSP00000490471.1:n.972+37_972+40del
ENST00000637937.1:n.280+37_280+40del
ENST00000678991.1:c.*833+37_*833+40del	ENSP00000503019.1:n.*833+37_*833+40del
ENST00000236671.6:c.972+37_972+40del	ENSP00000236671.2:n.972+37_972+40del
ENST00000427721.2:c.372+37_372+40del	ENSP00000415840.2:n.372+37_372+40del
ENST00000429746.1:c.303+37_303+40del	ENSP00000402586.1:n.303+37_303+40del
ENST00000433655.5:c.*138+37_*138+40del	ENSP00000404902.1:n.*138+37_*138+40del
ENST00000497544.1:n.625_628del
NM_001909.4:c.972+37_972+40del	NP_001900.1:n.972+37_972+40del
NM_001909.5:c.972+37_972+40del MANE Select	NP_001900.1:n.972+37_972+40del