Canonical Allele Identifier: CA1947825145

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753621_1753622delinsTC , CM000673.2:g.1753621_1753622delinsTC	GRCh38
NC_000011.9:g.1774851_1774852delinsTC , CM000673.1:g.1774851_1774852delinsTC	GRCh37
NC_000011.8:g.1731427_1731428delinsTC	NCBI36
NG_008655.1:g.15371_15372delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1120_1121delinsGA MANE Select	ENSP00000236671.2:p.Asp374=
ENST00000367196.4:c.1015_1016delinsGA	ENSP00000356164.4:p.Asp339=
ENST00000427721.3:c.545_546delinsGA
ENST00000429746.2:c.1015_1016delinsGA	ENSP00000402586.2:p.Asp339=
ENST00000433655.6:c.*286_*287delinsGA	ENSP00000404902.1:n.*286_*287delinsGA
ENST00000438213.6:c.1237_1238delinsGA	ENSP00000415036.2:p.Asp413=
ENST00000636397.1:c.1071+181_1071+182delinsGA	ENSP00000489910.1:n.1071+181_1071+182delinsGA
ENST00000636571.1:c.1099_1100delinsGA	ENSP00000490770.1:p.Asp367=
ENST00000636579.1:c.72+181_72+182delinsGA	ENSP00000490489.1:n.72+181_72+182delinsGA
ENST00000636615.1:c.1071+181_1071+182delinsGA	ENSP00000490014.1:n.1071+181_1071+182delinsGA
ENST00000636843.1:c.1114_1115delinsGA	ENSP00000490897.1:p.Asp372=
ENST00000637158.1:n.718_719delinsGA
ENST00000637381.2:n.3548_3549delinsGA
ENST00000637387.1:c.1099_1100delinsGA	ENSP00000490598.1:p.Asp367=
ENST00000637815.2:c.1102_1103delinsGA	ENSP00000490344.1:p.Asp368=
ENST00000637915.1:c.1111_1112delinsGA	ENSP00000490471.1:p.Asp371=
ENST00000637937.1:n.428_429delinsGA
ENST00000678991.1:c.*981_*982delinsGA	ENSP00000503019.1:n.*981_*982delinsGA
ENST00000236671.6:c.1120_1121delinsGA	ENSP00000236671.2:p.Asp374=
ENST00000427721.2:c.471+181_471+182delinsGA	ENSP00000415840.2:n.471+181_471+182delinsGA
ENST00000429746.1:c.451_452delinsGA	ENSP00000402586.1:p.Asp151=
ENST00000433655.5:c.*286_*287delinsGA	ENSP00000404902.1:n.*286_*287delinsGA
NM_001909.4:c.1120_1121delinsGA	NP_001900.1:p.Asp374=
NM_001909.5:c.1120_1121delinsGA MANE Select	NP_001900.1:p.Asp374=