Canonical Allele Identifier: CA969211929

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599973del , CM000677.2:g.43599973del GRCh38
NC_000015.9:g.43892171del , CM000677.1:g.43892171del GRCh37
NC_000015.8:g.41679463del NCBI36
NG_011636.1:g.23830del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5228del (STRC) MANE Select ENSP00000401513.2:p.Pro1743GlnfsTer24
ENST00000411560.1:n.142+440del (CKMT1B)
ENST00000428650.5:c.*2261del (STRC) ENSP00000415991.1:n.*2261del
ENST00000440125.5:c.*3020del (STRC) ENSP00000394866.1:n.*3020del
ENST00000448437.6:n.2348del (STRC)
ENST00000450892.6:c.5228del (STRC) ENSP00000401513.2:p.Pro1743GlnfsTer24
ENST00000471703.5:n.3182del (STRC)
ENST00000485556.5:n.4083del (STRC)
ENST00000541030.5:c.2909del (STRC) ENSP00000440413.1:p.Pro970GlnfsTer24
NM_153700.2:c.5228del (STRC) MANE Select NP_714544.1:p.Pro1743GlnfsTer24
XM_011521277.1:c.5717del (STRC) XP_011519579.1:p.Pro1906GlnfsTer24
XM_011521278.1:c.5333del (STRC) XP_011519580.1:p.Pro1778GlnfsTer24
XM_011521279.1:c.5333del (STRC) XP_011519581.1:p.Pro1778GlnfsTer24