Canonical Allele Identifier: CA2173248515

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601378_43601379delinsGA , CM000677.2:g.43601378_43601379delinsGA GRCh38
NC_000015.9:g.43893576_43893577delinsGA , CM000677.1:g.43893576_43893577delinsGA GRCh37
NC_000015.8:g.41680868_41680869delinsGA NCBI36
NG_011636.1:g.22422_22423delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4701+17_4701+18delinsTC (STRC) MANE Select ENSP00000401513.2:n.4701+17_4701+18delinsTC
ENST00000411560.1:n.142+1845_142+1846delinsGA (CKMT1B)
ENST00000428650.5:c.*1734+17_*1734+18delinsTC (STRC) ENSP00000415991.1:n.*1734+17_*1734+18delinsTC
ENST00000440125.5:c.*2493+17_*2493+18delinsTC (STRC) ENSP00000394866.1:n.*2493+17_*2493+18delinsTC
ENST00000448437.6:n.1821+17_1821+18delinsTC (STRC)
ENST00000450892.6:c.4701+17_4701+18delinsTC (STRC) ENSP00000401513.2:n.4701+17_4701+18delinsTC
ENST00000460952.1:n.280+17_280+18delinsTC (STRC)
ENST00000471703.5:n.2655+17_2655+18delinsTC (STRC)
ENST00000485556.5:n.3556+17_3556+18delinsTC (STRC)
ENST00000493750.1:n.497+17_497+18delinsTC (STRC)
ENST00000541030.5:c.2382+17_2382+18delinsTC (STRC) ENSP00000440413.1:n.2382+17_2382+18delinsTC
NM_153700.2:c.4701+17_4701+18delinsTC (STRC) MANE Select NP_714544.1:n.4701+17_4701+18delinsTC
XM_011521277.1:c.5190+17_5190+18delinsTC (STRC) XP_011519579.1:n.5190+17_5190+18delinsTC
XM_011521278.1:c.4806+17_4806+18delinsTC (STRC) XP_011519580.1:n.4806+17_4806+18delinsTC
XM_011521279.1:c.4806+17_4806+18delinsTC (STRC) XP_011519581.1:n.4806+17_4806+18delinsTC