Canonical Allele Identifier: CA2575704266

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599715del , CM000677.2:g.43599715del GRCh38
NC_000015.9:g.43891913del , CM000677.1:g.43891913del GRCh37
NC_000015.8:g.41679205del NCBI36
NG_011636.1:g.24087del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5286del (STRC) MANE Select ENSP00000401513.2:p.Trp1762CysfsTer5
ENST00000411560.1:n.142+182del (CKMT1B)
ENST00000428650.5:c.*2319del (STRC) ENSP00000415991.1:n.*2319del
ENST00000440125.5:c.*3078del (STRC) ENSP00000394866.1:n.*3078del
ENST00000448437.6:n.2406del (STRC)
ENST00000450892.6:c.5286del (STRC) ENSP00000401513.2:p.Trp1762CysfsTer5
ENST00000471703.5:n.3240del (STRC)
ENST00000485556.5:n.4141del (STRC)
ENST00000541030.5:c.2967del (STRC) ENSP00000440413.1:p.Trp989CysfsTer5
NM_153700.2:c.5286del (STRC) MANE Select NP_714544.1:p.Trp1762CysfsTer5
XM_011521277.1:c.5775del (STRC) XP_011519579.1:p.Trp1925CysfsTer5
XM_011521278.1:c.5391del (STRC) XP_011519580.1:p.Trp1797CysfsTer5
XM_011521279.1:c.5391del (STRC) XP_011519581.1:p.Trp1797CysfsTer5