Canonical Allele Identifier: CA1947825110

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753552_1753554delinsAAC , CM000673.2:g.1753552_1753554delinsAAC	GRCh38
NC_000011.9:g.1774782_1774784delinsAAC , CM000673.1:g.1774782_1774784delinsAAC	GRCh37
NC_000011.8:g.1731358_1731360delinsAAC	NCBI36
NG_008655.1:g.15439_15441delinsGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1188_1190delinsGTT MANE Select	ENSP00000236671.2:p.Val396=
ENST00000367196.4:c.1083_1085delinsGTT	ENSP00000356164.4:p.Val361=
ENST00000427721.3:c.613_615delinsGTT
ENST00000429746.2:c.1083_1085delinsGTT	ENSP00000402586.2:p.Val361=
ENST00000433655.6:c.*354_*356delinsGTT	ENSP00000404902.1:n.*354_*356delinsGTT
ENST00000438213.6:c.1305_1307delinsGTT	ENSP00000415036.2:p.Val435=
ENST00000636397.1:c.1071+249_1071+251delinsGTT	ENSP00000489910.1:n.1071+249_1071+251deli...
ENST00000636571.1:c.1167_1169delinsGTT	ENSP00000490770.1:p.Val389=
ENST00000636579.1:c.72+249_72+251delinsGTT	ENSP00000490489.1:n.72+249_72+251delinsGT...
ENST00000636615.1:c.1071+249_1071+251delinsGTT	ENSP00000490014.1:n.1071+249_1071+251deli...
ENST00000636843.1:c.1182_1184delinsGTT	ENSP00000490897.1:p.Val394=
ENST00000637158.1:n.786_788delinsGTT
ENST00000637381.2:n.3616_3618delinsGTT
ENST00000637387.1:c.1167_1169delinsGTT	ENSP00000490598.1:p.Val389=
ENST00000637815.2:c.1170_1172delinsGTT	ENSP00000490344.1:p.Val390=
ENST00000637915.1:c.1179_1181delinsGTT	ENSP00000490471.1:p.Val393=
ENST00000637937.1:n.496_498delinsGTT
ENST00000678991.1:c.*1049_*1051delinsGTT	ENSP00000503019.1:n.*1049_*1051delinsGTT
ENST00000236671.6:c.1188_1190delinsGTT	ENSP00000236671.2:p.Val396=
ENST00000427721.2:c.471+249_471+251delinsGTT	ENSP00000415840.2:n.471+249_471+251delins...
ENST00000429746.1:c.519_521delinsGTT	ENSP00000402586.1:p.Val173=
ENST00000433655.5:c.*354_*356delinsGTT	ENSP00000404902.1:n.*354_*356delinsGTT
NM_001909.4:c.1188_1190delinsGTT	NP_001900.1:p.Val396=
NM_001909.5:c.1188_1190delinsGTT MANE Select	NP_001900.1:p.Val396=