Canonical Allele Identifier: CA1947825326

Gene: CTSD

Linked Data

• dbSNP Id: rs1845761329

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753925_1753926del , CM000673.2:g.1753925_1753926del	GRCh38
NC_000011.9:g.1775155_1775156del , CM000673.1:g.1775155_1775156del	GRCh37
NC_000011.8:g.1731731_1731732del	NCBI36
NG_008655.1:g.15067_15068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.973-25_973-24del MANE Select	ENSP00000236671.2:n.973-25_973-24del
ENST00000367196.4:c.868-25_868-24del	ENSP00000356164.4:n.868-25_868-24del
ENST00000427721.3:c.398-25_398-24del
ENST00000429746.2:c.868-25_868-24del	ENSP00000402586.2:n.868-25_868-24del
ENST00000433655.6:c.*139-25_*139-24del	ENSP00000404902.1:n.*139-25_*139-24del
ENST00000438213.6:c.1090-25_1090-24del	ENSP00000415036.2:n.1090-25_1090-24del
ENST00000497544.3:n.656_657del
ENST00000636397.1:c.973-25_973-24del	ENSP00000489910.1:n.973-25_973-24del
ENST00000636571.1:c.952-25_952-24del	ENSP00000490770.1:n.952-25_952-24del
ENST00000636615.1:c.973-25_973-24del	ENSP00000490014.1:n.973-25_973-24del
ENST00000636843.1:c.967-25_967-24del	ENSP00000490897.1:n.967-25_967-24del
ENST00000637158.1:n.571-25_571-24del
ENST00000637381.2:n.3401-25_3401-24del
ENST00000637387.1:c.973-46_973-45del	ENSP00000490598.1:n.973-46_973-45del
ENST00000637815.2:c.955-25_955-24del	ENSP00000490344.1:n.955-25_955-24del
ENST00000637915.1:c.973-25_973-24del	ENSP00000490471.1:n.973-25_973-24del
ENST00000637937.1:n.281-25_281-24del
ENST00000678991.1:c.*834-25_*834-24del	ENSP00000503019.1:n.*834-25_*834-24del
ENST00000236671.6:c.973-25_973-24del	ENSP00000236671.2:n.973-25_973-24del
ENST00000427721.2:c.373-25_373-24del	ENSP00000415840.2:n.373-25_373-24del
ENST00000429746.1:c.304-25_304-24del	ENSP00000402586.1:n.304-25_304-24del
ENST00000433655.5:c.*139-25_*139-24del	ENSP00000404902.1:n.*139-25_*139-24del
ENST00000497544.1:n.656_657del
NM_001909.4:c.973-25_973-24del	NP_001900.1:n.973-25_973-24del
NM_001909.5:c.973-25_973-24del MANE Select	NP_001900.1:n.973-25_973-24del