Canonical Allele Identifier: CA2628142089

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601285_43601287del , CM000677.2:g.43601285_43601287del GRCh38
NC_000015.9:g.43893483_43893485del , CM000677.1:g.43893483_43893485del GRCh37
NC_000015.8:g.41680775_41680777del NCBI36
NG_011636.1:g.22517_22519del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4701+112_4701+114del (STRC) MANE Select ENSP00000401513.2:n.4701+112_4701+114del
ENST00000411560.1:n.142+1752_142+1754del (CKMT1B)
ENST00000428650.5:c.*1734+112_*1734+114del (STRC) ENSP00000415991.1:n.*1734+112_*1734+114del
ENST00000440125.5:c.*2493+112_*2493+114del (STRC) ENSP00000394866.1:n.*2493+112_*2493+114del
ENST00000448437.6:n.1821+112_1821+114del (STRC)
ENST00000450892.6:c.4701+112_4701+114del (STRC) ENSP00000401513.2:n.4701+112_4701+114del
ENST00000460952.1:n.280+112_280+114del (STRC)
ENST00000471703.5:n.2655+112_2655+114del (STRC)
ENST00000485556.5:n.3556+112_3556+114del (STRC)
ENST00000493750.1:n.497+112_497+114del (STRC)
ENST00000541030.5:c.2382+112_2382+114del (STRC) ENSP00000440413.1:n.2382+112_2382+114del
NM_153700.2:c.4701+112_4701+114del (STRC) MANE Select NP_714544.1:n.4701+112_4701+114del
XM_011521277.1:c.5190+112_5190+114del (STRC) XP_011519579.1:n.5190+112_5190+114del
XM_011521278.1:c.4806+112_4806+114del (STRC) XP_011519580.1:n.4806+112_4806+114del
XM_011521279.1:c.4806+112_4806+114del (STRC) XP_011519581.1:n.4806+112_4806+114del