Canonical Allele Identifier: CA597430604

Gene: CTSD

Linked Data

• dbSNP Id: rs1456186199
• gnomAD v2: 11-1774782-AAC-A
• gnomAD v4: 11-1753552-AAC-A
• MyVariant Identifiers: chr11:g.1774783_1774784del (hg19) ; chr11:g.1753553_1753554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753556_1753557del , CM000673.2:g.1753556_1753557del	GRCh38
NC_000011.9:g.1774786_1774787del , CM000673.1:g.1774786_1774787del	GRCh37
NC_000011.8:g.1731362_1731363del	NCBI36
NG_008655.1:g.15439_15440del

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1188_1189del MANE Select	ENSP00000236671.2:p.Phe397Ter
ENST00000367196.4:c.1083_1084del	ENSP00000356164.4:p.Phe362Ter
ENST00000427721.3:c.613_614del
ENST00000429746.2:c.1083_1084del	ENSP00000402586.2:p.Phe362Ter
ENST00000433655.6:c.*354_*355del	ENSP00000404902.1:n.*354_*355del
ENST00000438213.6:c.1305_1306del	ENSP00000415036.2:p.Phe436Ter
ENST00000636397.1:c.1071+249_1071+250del	ENSP00000489910.1:n.1071+249_1071+250del
ENST00000636571.1:c.1167_1168del	ENSP00000490770.1:p.Phe390Ter
ENST00000636579.1:c.72+249_72+250del	ENSP00000490489.1:n.72+249_72+250del
ENST00000636615.1:c.1071+249_1071+250del	ENSP00000490014.1:n.1071+249_1071+250del
ENST00000636843.1:c.1182_1183del	ENSP00000490897.1:p.Phe395Ter
ENST00000637158.1:n.786_787del
ENST00000637381.2:n.3616_3617del
ENST00000637387.1:c.1167_1168del	ENSP00000490598.1:p.Phe390Ter
ENST00000637815.2:c.1170_1171del	ENSP00000490344.1:p.Phe391Ter
ENST00000637915.1:c.1179_1180del	ENSP00000490471.1:p.Phe394Ter
ENST00000637937.1:n.496_497del
ENST00000678991.1:c.*1049_*1050del	ENSP00000503019.1:n.*1049_*1050del
ENST00000236671.6:c.1188_1189del	ENSP00000236671.2:p.Phe397Ter
ENST00000427721.2:c.471+249_471+250del	ENSP00000415840.2:n.471+249_471+250del
ENST00000429746.1:c.519_520del	ENSP00000402586.1:p.Phe174Ter
ENST00000433655.5:c.*354_*355del	ENSP00000404902.1:n.*354_*355del
NM_001909.4:c.1188_1189del	NP_001900.1:p.Phe397Ter
NM_001909.5:c.1188_1189del MANE Select	NP_001900.1:p.Phe397Ter