Canonical Allele Identifier: CA5813971

Gene: CTSD

Linked Data

• dbSNP Id: rs749749338
• ExAC: 11:1775187 GCCAGCC / G
• gnomAD v2: 11-1775187-GCCAGCC-G
• gnomAD v3: 11-1753957-GCCAGCC-G
• gnomAD v4: 11-1753957-GCCAGCC-G
• MyVariant Identifiers: chr11:g.1775194_1775199del (hg19) ; chr11:g.1775188_1775193del (hg19) ; chr11:g.1753959_1753964del (hg38) ; chr11:g.1753958_1753963del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753978_1753983del , CM000673.2:g.1753978_1753983del	GRCh38
NC_000011.9:g.1775208_1775213del , CM000673.1:g.1775208_1775213del	GRCh37
NC_000011.8:g.1731784_1731789del	NCBI36
NG_008655.1:g.15030_15035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+31_972+36del MANE Select	ENSP00000236671.2:n.972+31_972+36del
ENST00000367196.4:c.867+31_867+36del	ENSP00000356164.4:n.867+31_867+36del
ENST00000427721.3:c.397+31_397+36del
ENST00000429746.2:c.867+31_867+36del	ENSP00000402586.2:n.867+31_867+36del
ENST00000433655.6:c.*138+31_*138+36del	ENSP00000404902.1:n.*138+31_*138+36del
ENST00000438213.6:c.1089+31_1089+36del	ENSP00000415036.2:n.1089+31_1089+36del
ENST00000497544.3:n.619_624del
ENST00000636397.1:c.972+31_972+36del	ENSP00000489910.1:n.972+31_972+36del
ENST00000636571.1:c.951+31_951+36del	ENSP00000490770.1:n.951+31_951+36del
ENST00000636615.1:c.972+31_972+36del	ENSP00000490014.1:n.972+31_972+36del
ENST00000636843.1:c.966+31_966+36del	ENSP00000490897.1:n.966+31_966+36del
ENST00000637158.1:n.570+31_570+36del
ENST00000637381.2:n.3400+31_3400+36del
ENST00000637387.1:c.972+31_972+36del	ENSP00000490598.1:n.972+31_972+36del
ENST00000637815.2:c.954+31_954+36del	ENSP00000490344.1:n.954+31_954+36del
ENST00000637915.1:c.972+31_972+36del	ENSP00000490471.1:n.972+31_972+36del
ENST00000637937.1:n.280+31_280+36del
ENST00000678991.1:c.*833+31_*833+36del	ENSP00000503019.1:n.*833+31_*833+36del
ENST00000236671.6:c.972+31_972+36del	ENSP00000236671.2:n.972+31_972+36del
ENST00000427721.2:c.372+31_372+36del	ENSP00000415840.2:n.372+31_372+36del
ENST00000429746.1:c.303+31_303+36del	ENSP00000402586.1:n.303+31_303+36del
ENST00000433655.5:c.*138+31_*138+36del	ENSP00000404902.1:n.*138+31_*138+36del
ENST00000497544.1:n.619_624del
NM_001909.4:c.972+31_972+36del	NP_001900.1:n.972+31_972+36del
NM_001909.5:c.972+31_972+36del MANE Select	NP_001900.1:n.972+31_972+36del