Canonical Allele Identifier: CA2173248602

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601547_43601548delinsCA , CM000677.2:g.43601547_43601548delinsCA GRCh38
NC_000015.9:g.43893745_43893746delinsCA , CM000677.1:g.43893745_43893746delinsCA GRCh37
NC_000015.8:g.41681037_41681038delinsCA NCBI36
NG_011636.1:g.22253_22254delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4549_4550delinsTG (STRC) MANE Select ENSP00000401513.2:p.Trp1517=
ENST00000411560.1:n.142+2014_142+2015delinsCA (CKMT1B)
ENST00000428650.5:c.*1582_*1583delinsTG (STRC) ENSP00000415991.1:n.*1582_*1583delinsTG
ENST00000440125.5:c.*2341_*2342delinsTG (STRC) ENSP00000394866.1:n.*2341_*2342delinsTG
ENST00000448437.6:n.1669_1670delinsTG (STRC)
ENST00000450892.6:c.4549_4550delinsTG (STRC) ENSP00000401513.2:p.Trp1517=
ENST00000460952.1:n.128_129delinsTG (STRC)
ENST00000471703.5:n.2503_2504delinsTG (STRC)
ENST00000485556.5:n.3404_3405delinsTG (STRC)
ENST00000493750.1:n.345_346delinsTG (STRC)
ENST00000541030.5:c.2230_2231delinsTG (STRC) ENSP00000440413.1:p.Trp744=
NM_153700.2:c.4549_4550delinsTG (STRC) MANE Select NP_714544.1:p.Trp1517=
XM_011521277.1:c.5038_5039delinsTG (STRC) XP_011519579.1:p.Trp1680=
XM_011521278.1:c.4654_4655delinsTG (STRC) XP_011519580.1:p.Trp1552=
XM_011521279.1:c.4654_4655delinsTG (STRC) XP_011519581.1:p.Trp1552=