Canonical Allele Identifier: CA2575704290

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599930_43599944del , CM000677.2:g.43599930_43599944del GRCh38
NC_000015.9:g.43892128_43892142del , CM000677.1:g.43892128_43892142del GRCh37
NC_000015.8:g.41679420_41679434del NCBI36
NG_011636.1:g.23859_23873del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5239+18_5239+32del (STRC) MANE Select ENSP00000401513.2:n.5239+18_5239+32del
ENST00000411560.1:n.142+397_142+411del (CKMT1B)
ENST00000428650.5:c.*2272+18_*2272+32del (STRC) ENSP00000415991.1:n.*2272+18_*2272+32del
ENST00000440125.5:c.*3031+18_*3031+32del (STRC) ENSP00000394866.1:n.*3031+18_*3031+32del
ENST00000448437.6:n.2359+18_2359+32del (STRC)
ENST00000450892.6:c.5239+18_5239+32del (STRC) ENSP00000401513.2:n.5239+18_5239+32del
ENST00000471703.5:n.3193+18_3193+32del (STRC)
ENST00000485556.5:n.4094+18_4094+32del (STRC)
ENST00000541030.5:c.2920+18_2920+32del (STRC) ENSP00000440413.1:n.2920+18_2920+32del
NM_153700.2:c.5239+18_5239+32del (STRC) MANE Select NP_714544.1:n.5239+18_5239+32del
XM_011521277.1:c.5728+18_5728+32del (STRC) XP_011519579.1:n.5728+18_5728+32del
XM_011521278.1:c.5344+18_5344+32del (STRC) XP_011519580.1:n.5344+18_5344+32del
XM_011521279.1:c.5344+18_5344+32del (STRC) XP_011519581.1:n.5344+18_5344+32del