Canonical Allele Identifier: CA2573147795

Gene: CTSC

Linked Data

• ClinVar Variation Id: 1679189
• ClinVar RCV Id: RCV002226632

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312511_88312513dup , CM000673.2:g.88312511_88312513dup	GRCh38
NC_000011.9:g.88045679_88045681dup , CM000673.1:g.88045679_88045681dup	GRCh37
NC_000011.8:g.87685327_87685329dup	NCBI36
NG_007952.1:g.30261_30263dup , LRG_50:g.30261_30263dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.360_362dup MANE Select	ENSP00000227266.4:p.Thr121_Met122insThr
ENST00000527018.6:c.360_362dup	ENSP00000432556.2:p.Thr121_Met122insThr
ENST00000533897.2:n.408_410dup
ENST00000676612.1:c.*167_*169dup	ENSP00000504440.1:n.*167_*169dup
ENST00000677208.1:c.319-3195_319-3193dup	ENSP00000504347.1:n.319-3195_319-3193dup
ENST00000677661.1:c.*37_*39dup	ENSP00000503323.1:n.*37_*39dup
ENST00000677802.1:c.*37_*39dup	ENSP00000504115.1:n.*37_*39dup
ENST00000678395.1:c.360_362dup	ENSP00000503123.1:p.Thr121_Met122insThr
ENST00000678464.1:c.360_362dup	ENSP00000503046.1:p.Thr121_Met122insThr
ENST00000678506.1:c.360_362dup	ENSP00000503580.1:p.Thr121_Met122insThr
ENST00000678520.1:c.*167_*169dup	ENSP00000503361.1:n.*167_*169dup
ENST00000678554.1:c.360_362dup	ENSP00000504541.1:p.Thr121_Met122insThr
ENST00000678915.1:c.360_362dup	ENSP00000504805.1:p.Thr121_Met122insThr
ENST00000679224.1:c.-4_-2dup	ENSP00000504475.1:n.-4_-2dup
ENST00000227266.9:c.360_362dup	ENSP00000227266.4:p.Thr121_Met122insThr
ENST00000527018.5:c.230_232dup
ENST00000533865.5:n.382_384dup
NM_001814.4:c.360_362dup , LRG_50t1:c.360_362dup	NP_001805.3:p.Thr121_Met122insThr
NM_001814.5:c.360_362dup	NP_001805.3:p.Thr121_Met122insThr
NM_001814.6:c.360_362dup MANE Select	NP_001805.4:p.Thr121_Met122insThr