Canonical Allele Identifier: CA2628142513

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601548_43601551del , CM000677.2:g.43601548_43601551del GRCh38
NC_000015.9:g.43893746_43893749del , CM000677.1:g.43893746_43893749del GRCh37
NC_000015.8:g.41681038_41681041del NCBI36
NG_011636.1:g.22250_22253del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4546_4549del (STRC) MANE Select ENSP00000401513.2:p.Leu1516GlyfsTer19
ENST00000411560.1:n.142+2015_142+2018del (CKMT1B)
ENST00000428650.5:c.*1579_*1582del (STRC) ENSP00000415991.1:n.*1579_*1582del
ENST00000440125.5:c.*2338_*2341del (STRC) ENSP00000394866.1:n.*2338_*2341del
ENST00000448437.6:n.1666_1669del (STRC)
ENST00000450892.6:c.4546_4549del (STRC) ENSP00000401513.2:p.Leu1516GlyfsTer19
ENST00000460952.1:n.125_128del (STRC)
ENST00000471703.5:n.2500_2503del (STRC)
ENST00000485556.5:n.3401_3404del (STRC)
ENST00000493750.1:n.342_345del (STRC)
ENST00000541030.5:c.2227_2230del (STRC) ENSP00000440413.1:p.Leu743GlyfsTer19
NM_153700.2:c.4546_4549del (STRC) MANE Select NP_714544.1:p.Leu1516GlyfsTer19
XM_011521277.1:c.5035_5038del (STRC) XP_011519579.1:p.Leu1679GlyfsTer19
XM_011521278.1:c.4651_4654del (STRC) XP_011519580.1:p.Leu1551GlyfsTer19
XM_011521279.1:c.4651_4654del (STRC) XP_011519581.1:p.Leu1551GlyfsTer19