Canonical Allele Identifier: CA2803948546

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600752_43600753del , CM000677.2:g.43600752_43600753del GRCh38
NC_000015.9:g.43892950_43892951del , CM000677.1:g.43892950_43892951del GRCh37
NC_000015.8:g.41680242_41680243del NCBI36
NG_011636.1:g.23048_23049del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4845-71_4845-70del (STRC) MANE Select ENSP00000401513.2:n.4845-71_4845-70del
ENST00000411560.1:n.142+1219_142+1220del (CKMT1B)
ENST00000428650.5:c.*1878-71_*1878-70del (STRC) ENSP00000415991.1:n.*1878-71_*1878-70del
ENST00000440125.5:c.*2637-71_*2637-70del (STRC) ENSP00000394866.1:n.*2637-71_*2637-70del
ENST00000448437.6:n.1965-71_1965-70del (STRC)
ENST00000450892.6:c.4845-71_4845-70del (STRC) ENSP00000401513.2:n.4845-71_4845-70del
ENST00000460952.1:n.424-71_424-70del (STRC)
ENST00000471703.5:n.2799-71_2799-70del (STRC)
ENST00000485556.5:n.3700-71_3700-70del (STRC)
ENST00000541030.5:c.2526-71_2526-70del (STRC) ENSP00000440413.1:n.2526-71_2526-70del
NM_153700.2:c.4845-71_4845-70del (STRC) MANE Select NP_714544.1:n.4845-71_4845-70del
XM_011521277.1:c.5334-71_5334-70del (STRC) XP_011519579.1:n.5334-71_5334-70del
XM_011521278.1:c.4950-71_4950-70del (STRC) XP_011519580.1:n.4950-71_4950-70del
XM_011521279.1:c.4950-71_4950-70del (STRC) XP_011519581.1:n.4950-71_4950-70del