Canonical Allele Identifier: CA2615475882

Gene: CTSC

Linked Data

• gnomAD v4: 11-88312494-GCACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312501_88312504del , CM000673.2:g.88312501_88312504del	GRCh38
NC_000011.9:g.88045669_88045672del , CM000673.1:g.88045669_88045672del	GRCh37
NC_000011.8:g.87685317_87685320del	NCBI36
NG_007952.1:g.30276_30279del , LRG_50:g.30276_30279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.375_378del MANE Select	ENSP00000227266.4:p.Trp125CysfsTer28
ENST00000527018.6:c.375_378del	ENSP00000432556.2:p.Trp125CysfsTer28
ENST00000533897.2:n.423_426del
ENST00000676612.1:c.*182_*185del	ENSP00000504440.1:n.*182_*185del
ENST00000677208.1:c.319-3180_319-3177del	ENSP00000504347.1:n.319-3180_319-3177del
ENST00000677661.1:c.*52_*55del	ENSP00000503323.1:n.*52_*55del
ENST00000677802.1:c.*52_*55del	ENSP00000504115.1:n.*52_*55del
ENST00000678395.1:c.375_378del	ENSP00000503123.1:p.Trp125CysfsTer?
ENST00000678464.1:c.375_378del	ENSP00000503046.1:p.Trp125CysfsTer28
ENST00000678506.1:c.375_378del	ENSP00000503580.1:p.Trp125CysfsTer?
ENST00000678520.1:c.*182_*185del	ENSP00000503361.1:n.*182_*185del
ENST00000678554.1:c.375_378del	ENSP00000504541.1:p.Trp125CysfsTer28
ENST00000678915.1:c.375_378del	ENSP00000504805.1:p.Trp125CysfsTer28
ENST00000679224.1:c.12_15del	ENSP00000504475.1:p.Trp4CysfsTer28
ENST00000227266.9:c.375_378del	ENSP00000227266.4:p.Trp125CysfsTer28
ENST00000527018.5:c.245_248del
ENST00000533865.5:n.397_400del
NM_001814.4:c.375_378del , LRG_50t1:c.375_378del	NP_001805.3:p.Trp125CysfsTer?
NM_001814.5:c.375_378del	NP_001805.3:p.Trp125CysfsTer?
NM_001814.6:c.375_378del MANE Select	NP_001805.4:p.Trp125CysfsTer28