Canonical Allele Identifier: CA2559256533

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599962del , CM000677.2:g.43599962del GRCh38
NC_000015.9:g.43892160del , CM000677.1:g.43892160del GRCh37
NC_000015.8:g.41679452del NCBI36
NG_011636.1:g.23840del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5238del (STRC) MANE Select ENSP00000401513.2:p.Gly1747ValfsTer20
ENST00000411560.1:n.142+429del (CKMT1B)
ENST00000428650.5:c.*2271del (STRC) ENSP00000415991.1:n.*2271del
ENST00000440125.5:c.*3030del (STRC) ENSP00000394866.1:n.*3030del
ENST00000448437.6:n.2358del (STRC)
ENST00000450892.6:c.5238del (STRC) ENSP00000401513.2:p.Gly1747ValfsTer20
ENST00000471703.5:n.3192del (STRC)
ENST00000485556.5:n.4093del (STRC)
ENST00000541030.5:c.2919del (STRC) ENSP00000440413.1:p.Gly974ValfsTer20
NM_153700.2:c.5238del (STRC) MANE Select NP_714544.1:p.Gly1747ValfsTer20
XM_011521277.1:c.5727del (STRC) XP_011519579.1:p.Gly1910ValfsTer20
XM_011521278.1:c.5343del (STRC) XP_011519580.1:p.Gly1782ValfsTer20
XM_011521279.1:c.5343del (STRC) XP_011519581.1:p.Gly1782ValfsTer20