Canonical Allele Identifier: CA2173248139

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600687_43600700delinsAGAACAGTAGGAAG , CM000677.2:g.43600687_43600700delinsAGAACAGTAGGAAG GRCh38
NC_000015.9:g.43892885_43892898delinsAGAACAGTAGGAAG , CM000677.1:g.43892885_43892898delinsAGAACAGTAGGAAG GRCh37
NC_000015.8:g.41680177_41680190delinsAGAACAGTAGGAAG NCBI36
NG_011636.1:g.23101_23114delinsCTTCCTACTGTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4845-18_4845-5delinsCTTCCTACTGTTCT (STRC) MANE Select ENSP00000401513.2:n.4845-18_4845-5delinsCTTCCTACTGTTCT
ENST00000411560.1:n.142+1154_142+1167delinsAGAACAGTAGGAAG (CKMT1B)
ENST00000428650.5:c.*1878-18_*1878-5delinsCTTCCTACTGTTCT (STRC) ENSP00000415991.1:n.*1878-18_*1878-5delinsCTTCCTACTGTTCT
ENST00000440125.5:c.*2637-18_*2637-5delinsCTTCCTACTGTTCT (STRC) ENSP00000394866.1:n.*2637-18_*2637-5delinsCTTCCTACTGTTCT
ENST00000448437.6:n.1965-18_1965-5delinsCTTCCTACTGTTCT (STRC)
ENST00000450892.6:c.4845-18_4845-5delinsCTTCCTACTGTTCT (STRC) ENSP00000401513.2:n.4845-18_4845-5delinsCTTCCTACTGTTCT
ENST00000460952.1:n.424-18_424-5delinsCTTCCTACTGTTCT (STRC)
ENST00000471703.5:n.2799-18_2799-5delinsCTTCCTACTGTTCT (STRC)
ENST00000485556.5:n.3700-18_3700-5delinsCTTCCTACTGTTCT (STRC)
ENST00000541030.5:c.2526-18_2526-5delinsCTTCCTACTGTTCT (STRC) ENSP00000440413.1:n.2526-18_2526-5delinsCTTCCTACTGTTCT
NM_153700.2:c.4845-18_4845-5delinsCTTCCTACTGTTCT (STRC) MANE Select NP_714544.1:n.4845-18_4845-5delinsCTTCCTACTGTTCT
XM_011521277.1:c.5334-18_5334-5delinsCTTCCTACTGTTCT (STRC) XP_011519579.1:n.5334-18_5334-5delinsCTTCCTACTGTTCT
XM_011521278.1:c.4950-18_4950-5delinsCTTCCTACTGTTCT (STRC) XP_011519580.1:n.4950-18_4950-5delinsCTTCCTACTGTTCT
XM_011521279.1:c.4950-18_4950-5delinsCTTCCTACTGTTCT (STRC) XP_011519581.1:n.4950-18_4950-5delinsCTTCCTACTGTTCT