Canonical Allele Identifier: CA118682

Gene: CTSC

Linked Data

• ClinVar Variation Id: 7293
• ClinVar RCV Id: RCV001851724
• dbSNP Id: rs587776655
• ExAC: 11:88027518 CT / C
• gnomAD v2: 11-88027518-CT-C
• MyVariant Identifiers: chr11:g.88027519del (hg19) ; chr11:g.88294351del (hg38)
• PubMed: PMID:10593994

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294351del , CM000673.2:g.88294351del	GRCh38
NC_000011.9:g.88027519del , CM000673.1:g.88027519del	GRCh37
NC_000011.8:g.87667167del	NCBI36
NG_007952.1:g.48423del , LRG_50:g.48423del

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1047del MANE Select	ENSP00000227266.4:p.Gly350ValfsTer10
ENST00000533897.2:n.5360del
ENST00000676612.1:c.*854del	ENSP00000504440.1:n.*854del
ENST00000677208.1:c.*553del	ENSP00000504347.1:n.*553del
ENST00000677661.1:c.*724del	ENSP00000503323.1:n.*724del
ENST00000677802.1:c.*724del	ENSP00000504115.1:n.*724del
ENST00000678395.1:c.*553del	ENSP00000503123.1:n.*553del
ENST00000678464.1:c.1014del	ENSP00000503046.1:p.Gly339ValfsTer10
ENST00000678506.1:c.1008del	ENSP00000503580.1:p.Gly337ValfsTer10
ENST00000678520.1:c.*698del	ENSP00000503361.1:n.*698del
ENST00000678554.1:c.889+1782del	ENSP00000504541.1:n.889+1782del
ENST00000678915.1:c.915del	ENSP00000504805.1:p.Gly306ValfsTer10
ENST00000679224.1:c.684del	ENSP00000504475.1:p.Gly229ValfsTer10
ENST00000227266.9:c.1047del	ENSP00000227266.4:p.Gly350ValfsTer10
ENST00000533897.1:n.3781del
NM_001814.4:c.1047del , LRG_50t1:c.1047del	NP_001805.3:p.Gly350ValfsTer10
NM_001814.5:c.1047del	NP_001805.3:p.Gly350ValfsTer10
NM_001814.6:c.1047del MANE Select	NP_001805.4:p.Gly350ValfsTer10