Canonical Allele Identifier: CA2628142084

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601283_43601286del , CM000677.2:g.43601283_43601286del GRCh38
NC_000015.9:g.43893481_43893484del , CM000677.1:g.43893481_43893484del GRCh37
NC_000015.8:g.41680773_41680776del NCBI36
NG_011636.1:g.22519_22522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4701+114_4701+117del (STRC) MANE Select ENSP00000401513.2:n.4701+114_4701+117del
ENST00000411560.1:n.142+1750_142+1753del (CKMT1B)
ENST00000428650.5:c.*1734+114_*1734+117del (STRC) ENSP00000415991.1:n.*1734+114_*1734+117del
ENST00000440125.5:c.*2493+114_*2493+117del (STRC) ENSP00000394866.1:n.*2493+114_*2493+117del
ENST00000448437.6:n.1821+114_1821+117del (STRC)
ENST00000450892.6:c.4701+114_4701+117del (STRC) ENSP00000401513.2:n.4701+114_4701+117del
ENST00000460952.1:n.280+114_280+117del (STRC)
ENST00000471703.5:n.2655+114_2655+117del (STRC)
ENST00000485556.5:n.3556+114_3556+117del (STRC)
ENST00000493750.1:n.497+114_497+117del (STRC)
ENST00000541030.5:c.2382+114_2382+117del (STRC) ENSP00000440413.1:n.2382+114_2382+117del
NM_153700.2:c.4701+114_4701+117del (STRC) MANE Select NP_714544.1:n.4701+114_4701+117del
XM_011521277.1:c.5190+114_5190+117del (STRC) XP_011519579.1:n.5190+114_5190+117del
XM_011521278.1:c.4806+114_4806+117del (STRC) XP_011519580.1:n.4806+114_4806+117del
XM_011521279.1:c.4806+114_4806+117del (STRC) XP_011519581.1:n.4806+114_4806+117del