Canonical Allele Identifier: CA1947825380

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754013_1754014delinsAC , CM000673.2:g.1754013_1754014delinsAC	GRCh38
NC_000011.9:g.1775243_1775244delinsAC , CM000673.1:g.1775243_1775244delinsAC	GRCh37
NC_000011.8:g.1731819_1731820delinsAC	NCBI36
NG_008655.1:g.14979_14980delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.952_953delinsGT MANE Select	ENSP00000236671.2:p.Val318=
ENST00000367196.4:c.847_848delinsGT	ENSP00000356164.4:p.Val283=
ENST00000427721.3:c.377_378delinsGT
ENST00000429746.2:c.847_848delinsGT	ENSP00000402586.2:p.Val283=
ENST00000433655.6:c.*118_*119delinsGT	ENSP00000404902.1:n.*118_*119delinsGT
ENST00000438213.6:c.1069_1070delinsGT	ENSP00000415036.2:p.Val357=
ENST00000497544.3:n.568_569delinsGT
ENST00000636397.1:c.952_953delinsGT	ENSP00000489910.1:p.Val318=
ENST00000636571.1:c.931_932delinsGT	ENSP00000490770.1:p.Val311=
ENST00000636615.1:c.952_953delinsGT	ENSP00000490014.1:p.Val318=
ENST00000636843.1:c.946_947delinsGT	ENSP00000490897.1:p.Val316=
ENST00000637158.1:n.550_551delinsGT
ENST00000637381.2:n.3380_3381delinsGT
ENST00000637387.1:c.952_953delinsGT	ENSP00000490598.1:p.Val318=
ENST00000637815.2:c.934_935delinsGT	ENSP00000490344.1:p.Val312=
ENST00000637915.1:c.952_953delinsGT	ENSP00000490471.1:p.Val318=
ENST00000637937.1:n.260_261delinsGT
ENST00000678991.1:c.*813_*814delinsGT	ENSP00000503019.1:n.*813_*814delinsGT
ENST00000236671.6:c.952_953delinsGT	ENSP00000236671.2:p.Val318=
ENST00000427721.2:c.352_353delinsGT	ENSP00000415840.2:p.Val118=
ENST00000429746.1:c.283_284delinsGT	ENSP00000402586.1:p.Val95=
ENST00000433655.5:c.*118_*119delinsGT	ENSP00000404902.1:n.*118_*119delinsGT
ENST00000497544.1:n.568_569delinsGT
NM_001909.4:c.952_953delinsGT	NP_001900.1:p.Val318=
NM_001909.5:c.952_953delinsGT MANE Select	NP_001900.1:p.Val318=