Canonical Allele Identifier: CA2628142507

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601545_43601546insTTCGT , CM000677.2:g.43601545_43601546insTTCGT GRCh38
NC_000015.9:g.43893743_43893744insTTCGT , CM000677.1:g.43893743_43893744insTTCGT GRCh37
NC_000015.8:g.41681035_41681036insTTCGT NCBI36
NG_011636.1:g.22255_22256insACGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4551_4552insACGAA (STRC) MANE Select ENSP00000401513.2:p.Gly1518ThrfsTer20
ENST00000411560.1:n.142+2012_142+2013insTTCGT (CKMT1B)
ENST00000428650.5:c.*1584_*1585insACGAA (STRC) ENSP00000415991.1:n.*1584_*1585insACGAA
ENST00000440125.5:c.*2343_*2344insACGAA (STRC) ENSP00000394866.1:n.*2343_*2344insACGAA
ENST00000448437.6:n.1671_1672insACGAA (STRC)
ENST00000450892.6:c.4551_4552insACGAA (STRC) ENSP00000401513.2:p.Gly1518ThrfsTer20
ENST00000460952.1:n.130_131insACGAA (STRC)
ENST00000471703.5:n.2505_2506insACGAA (STRC)
ENST00000485556.5:n.3406_3407insACGAA (STRC)
ENST00000493750.1:n.347_348insACGAA (STRC)
ENST00000541030.5:c.2232_2233insACGAA (STRC) ENSP00000440413.1:p.Gly745ThrfsTer20
NM_153700.2:c.4551_4552insACGAA (STRC) MANE Select NP_714544.1:p.Gly1518ThrfsTer20
XM_011521277.1:c.5040_5041insACGAA (STRC) XP_011519579.1:p.Gly1681ThrfsTer20
XM_011521278.1:c.4656_4657insACGAA (STRC) XP_011519580.1:p.Gly1553ThrfsTer20
XM_011521279.1:c.4656_4657insACGAA (STRC) XP_011519581.1:p.Gly1553ThrfsTer20