Canonical Allele Identifier: CA1947825312
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753907_1753908delinsAG , CM000673.2:g.1753907_1753908delinsAG GRCh38
NC_000011.9:g.1775137_1775138delinsAG , CM000673.1:g.1775137_1775138delinsAG GRCh37
NC_000011.8:g.1731713_1731714delinsAG NCBI36
NG_008655.1:g.15085_15086delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.973-7_973-6delinsCT MANE Select ENSP00000236671.2:n.973-7_973-6delinsCT
ENST00000367196.4:c.868-7_868-6delinsCT ENSP00000356164.4:n.868-7_868-6delinsCT
ENST00000427721.3:c.398-7_398-6delinsCT
ENST00000429746.2:c.868-7_868-6delinsCT ENSP00000402586.2:n.868-7_868-6delinsCT
ENST00000433655.6:c.*139-7_*139-6delinsCT ENSP00000404902.1:n.*139-7_*139-6delinsCT
ENST00000438213.6:c.1090-7_1090-6delinsCT ENSP00000415036.2:n.1090-7_1090-6delinsCT
ENST00000497544.3:n.674_675delinsCT
ENST00000636397.1:c.973-7_973-6delinsCT ENSP00000489910.1:n.973-7_973-6delinsCT
ENST00000636571.1:c.952-7_952-6delinsCT ENSP00000490770.1:n.952-7_952-6delinsCT
ENST00000636615.1:c.973-7_973-6delinsCT ENSP00000490014.1:n.973-7_973-6delinsCT
ENST00000636843.1:c.967-7_967-6delinsCT ENSP00000490897.1:n.967-7_967-6delinsCT
ENST00000637158.1:n.571-7_571-6delinsCT
ENST00000637381.2:n.3401-7_3401-6delinsCT
ENST00000637387.1:c.973-28_973-27delinsCT ENSP00000490598.1:n.973-28_973-27delinsCT
ENST00000637815.2:c.955-7_955-6delinsCT ENSP00000490344.1:n.955-7_955-6delinsCT
ENST00000637915.1:c.973-7_973-6delinsCT ENSP00000490471.1:n.973-7_973-6delinsCT
ENST00000637937.1:n.281-7_281-6delinsCT
ENST00000678991.1:c.*834-7_*834-6delinsCT ENSP00000503019.1:n.*834-7_*834-6delinsCT
ENST00000236671.6:c.973-7_973-6delinsCT ENSP00000236671.2:n.973-7_973-6delinsCT
ENST00000427721.2:c.373-7_373-6delinsCT ENSP00000415840.2:n.373-7_373-6delinsCT
ENST00000429746.1:c.304-7_304-6delinsCT ENSP00000402586.1:n.304-7_304-6delinsCT
ENST00000433655.5:c.*139-7_*139-6delinsCT ENSP00000404902.1:n.*139-7_*139-6delinsCT
ENST00000497544.1:n.674_675delinsCT
NM_001909.4:c.973-7_973-6delinsCT NP_001900.1:n.973-7_973-6delinsCT
NM_001909.5:c.973-7_973-6delinsCT MANE Select NP_001900.1:n.973-7_973-6delinsCT