Canonical Allele Identifier: CA2574888463
Community Standard Title: NM_003793.4(CTSF):c.594del (p.Tyr198Ter)
Gene: CTSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66567259del , CM000673.2:g.66567259del GRCh38
NC_000011.9:g.66334730del , CM000673.1:g.66334730del GRCh37
NC_000011.8:g.66091306del NCBI36
NG_032973.1:g.6318del

Transcript Alleles

HGVS Amino-acid Change
NM_003793.4:c.594del MANE Select NP_003784.2:p.Tyr198Ter
ENST00000310325.10:c.594del MANE Select ENSP00000310832.5:p.Tyr198Ter
NM_003793.3:c.594del NP_003784.2:p.Tyr198Ter
ENST00000310325.9:c.594del ENSP00000310832.5:p.Tyr198Ter
ENST00000524994.5:c.139del
ENST00000524994.6:c.594del ENSP00000433082.2:p.Tyr198Ter
ENST00000525733.6:c.594del ENSP00000434936.2:p.Tyr198Ter
ENST00000526010.1:c.318del ENSP00000435822.1:p.Tyr106Ter
ENST00000526010.2:c.318del ENSP00000435822.2:p.Tyr106Ter
ENST00000527141.5:n.115del
ENST00000527141.6:n.493del
ENST00000529561.5:n.432del
ENST00000529561.6:n.432del
ENST00000530565.6:n.123del
ENST00000533168.1:n.449del
ENST00000533168.2:n.682del
ENST00000676860.1:n.545del
ENST00000676924.1:c.594del ENSP00000503579.1:p.Tyr198Ter
ENST00000677005.1:c.594del ENSP00000503238.1:p.Tyr198Ter
ENST00000677186.1:n.714del
ENST00000677298.1:n.1000del
ENST00000677365.1:n.653del
ENST00000677526.1:c.594del ENSP00000504693.1:p.Tyr198Ter
ENST00000677587.1:c.636del ENSP00000503791.1:p.Tyr212Ter
ENST00000677779.1:n.439del
ENST00000677896.1:c.585del ENSP00000504605.1:p.Tyr195Ter
ENST00000677920.1:c.594del ENSP00000503614.1:p.Tyr198Ter
ENST00000678154.1:c.*256del ENSP00000502935.1:n.*256del
ENST00000678294.1:n.710del
ENST00000678305.1:c.522del ENSP00000504383.1:p.Tyr174Ter
ENST00000678383.1:n.603del
ENST00000678413.1:c.594del ENSP00000503232.1:p.Tyr198Ter
ENST00000678471.1:c.594del ENSP00000502949.1:p.Tyr198Ter
ENST00000678710.1:c.594del ENSP00000504254.1:p.Tyr198Ter
ENST00000678872.1:c.594del ENSP00000503425.1:p.Tyr198Ter
ENST00000678946.1:n.526del
ENST00000678953.1:c.*330del ENSP00000504169.1:n.*330del
ENST00000679011.1:c.594del ENSP00000503980.1:p.Tyr198Ter
ENST00000679024.1:c.594del ENSP00000503506.1:p.Tyr198Ter
ENST00000679160.1:c.522del ENSP00000503972.1:p.Tyr174Ter
ENST00000679225.1:n.537del
ENST00000679314.1:c.594del ENSP00000503465.1:p.Tyr198Ter
ENST00000679347.1:c.594del ENSP00000503676.1:p.Tyr198Ter
XM_011545328.1:c.414del XP_011543630.1:p.Tyr138Ter
XM_011545328.2:c.414del XP_011543630.1:p.Tyr138Ter