Canonical Allele Identifier: CA2628142085

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601281_43601287del , CM000677.2:g.43601281_43601287del GRCh38
NC_000015.9:g.43893479_43893485del , CM000677.1:g.43893479_43893485del GRCh37
NC_000015.8:g.41680771_41680777del NCBI36
NG_011636.1:g.22516_22522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4701+111_4701+117del (STRC) MANE Select ENSP00000401513.2:n.4701+111_4701+117del
ENST00000411560.1:n.142+1748_142+1754del (CKMT1B)
ENST00000428650.5:c.*1734+111_*1734+117del (STRC) ENSP00000415991.1:n.*1734+111_*1734+117del
ENST00000440125.5:c.*2493+111_*2493+117del (STRC) ENSP00000394866.1:n.*2493+111_*2493+117del
ENST00000448437.6:n.1821+111_1821+117del (STRC)
ENST00000450892.6:c.4701+111_4701+117del (STRC) ENSP00000401513.2:n.4701+111_4701+117del
ENST00000460952.1:n.280+111_280+117del (STRC)
ENST00000471703.5:n.2655+111_2655+117del (STRC)
ENST00000485556.5:n.3556+111_3556+117del (STRC)
ENST00000493750.1:n.497+111_497+117del (STRC)
ENST00000541030.5:c.2382+111_2382+117del (STRC) ENSP00000440413.1:n.2382+111_2382+117del
NM_153700.2:c.4701+111_4701+117del (STRC) MANE Select NP_714544.1:n.4701+111_4701+117del
XM_011521277.1:c.5190+111_5190+117del (STRC) XP_011519579.1:n.5190+111_5190+117del
XM_011521278.1:c.4806+111_4806+117del (STRC) XP_011519580.1:n.4806+111_4806+117del
XM_011521279.1:c.4806+111_4806+117del (STRC) XP_011519581.1:n.4806+111_4806+117del