Canonical Allele Identifier: CA2173248643

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601600_43601601delinsGT , CM000677.2:g.43601600_43601601delinsGT GRCh38
NC_000015.9:g.43893798_43893799delinsGT , CM000677.1:g.43893798_43893799delinsGT GRCh37
NC_000015.8:g.41681090_41681091delinsGT NCBI36
NG_011636.1:g.22200_22201delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4546-50_4546-49delinsAC (STRC) MANE Select ENSP00000401513.2:n.4546-50_4546-49delinsAC
ENST00000411560.1:n.142+2067_142+2068delinsGT (CKMT1B)
ENST00000428650.5:c.*1579-50_*1579-49delinsAC (STRC) ENSP00000415991.1:n.*1579-50_*1579-49delinsAC
ENST00000440125.5:c.*2338-50_*2338-49delinsAC (STRC) ENSP00000394866.1:n.*2338-50_*2338-49delinsAC
ENST00000448437.6:n.1666-50_1666-49delinsAC (STRC)
ENST00000450892.6:c.4546-50_4546-49delinsAC (STRC) ENSP00000401513.2:n.4546-50_4546-49delinsAC
ENST00000460952.1:n.75_76delinsAC (STRC)
ENST00000471703.5:n.2500-50_2500-49delinsAC (STRC)
ENST00000485556.5:n.3401-50_3401-49delinsAC (STRC)
ENST00000493750.1:n.342-50_342-49delinsAC (STRC)
ENST00000541030.5:c.2227-50_2227-49delinsAC (STRC) ENSP00000440413.1:n.2227-50_2227-49delinsAC
NM_153700.2:c.4546-50_4546-49delinsAC (STRC) MANE Select NP_714544.1:n.4546-50_4546-49delinsAC
XM_011521277.1:c.5035-50_5035-49delinsAC (STRC) XP_011519579.1:n.5035-50_5035-49delinsAC
XM_011521278.1:c.4651-50_4651-49delinsAC (STRC) XP_011519580.1:n.4651-50_4651-49delinsAC
XM_011521279.1:c.4651-50_4651-49delinsAC (STRC) XP_011519581.1:n.4651-50_4651-49delinsAC