Canonical Allele Identifier: CA2628140931

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604289_43604290del , CM000677.2:g.43604289_43604290del GRCh38
NC_000015.9:g.43896487_43896488del , CM000677.1:g.43896487_43896488del GRCh37
NC_000015.8:g.41683779_41683780del NCBI36
NG_011636.1:g.19511_19512del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4218+71_4218+72del (STRC) MANE Select ENSP00000401513.2:n.4218+71_4218+72del
ENST00000411560.1:n.143-495_143-494del (CKMT1B)
ENST00000428650.5:c.*1421+71_*1421+72del (STRC) ENSP00000415991.1:n.*1421+71_*1421+72del
ENST00000440125.5:c.*2010+71_*2010+72del (STRC) ENSP00000394866.1:n.*2010+71_*2010+72del
ENST00000448437.6:n.1666-2739_1666-2738del (STRC)
ENST00000450892.6:c.4218+71_4218+72del (STRC) ENSP00000401513.2:n.4218+71_4218+72del
ENST00000471703.5:n.2172+71_2172+72del (STRC)
ENST00000485556.5:n.3073+71_3073+72del (STRC)
ENST00000541030.5:c.1899+71_1899+72del (STRC) ENSP00000440413.1:n.1899+71_1899+72del
NM_153700.2:c.4218+71_4218+72del (STRC) MANE Select NP_714544.1:n.4218+71_4218+72del
XM_011521277.1:c.4707+71_4707+72del (STRC) XP_011519579.1:n.4707+71_4707+72del
XM_011521278.1:c.4323+71_4323+72del (STRC) XP_011519580.1:n.4323+71_4323+72del
XM_011521279.1:c.4323+71_4323+72del (STRC) XP_011519581.1:n.4323+71_4323+72del