Canonical Allele Identifier: CA2838389466

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604340dup , CM000677.2:g.43604340dup GRCh38
NC_000015.9:g.43896538dup , CM000677.1:g.43896538dup GRCh37
NC_000015.8:g.41683830dup NCBI36
NG_011636.1:g.19462dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4218+22dup (STRC) MANE Select ENSP00000401513.2:n.4218+22dup
ENST00000411560.1:n.143-444dup (CKMT1B)
ENST00000428650.5:c.*1421+22dup (STRC) ENSP00000415991.1:n.*1421+22dup
ENST00000440125.5:c.*2010+22dup (STRC) ENSP00000394866.1:n.*2010+22dup
ENST00000448437.6:n.1666-2788dup (STRC)
ENST00000450892.6:c.4218+22dup (STRC) ENSP00000401513.2:n.4218+22dup
ENST00000471703.5:n.2172+22dup (STRC)
ENST00000485556.5:n.3073+22dup (STRC)
ENST00000541030.5:c.1899+22dup (STRC) ENSP00000440413.1:n.1899+22dup
NM_153700.2:c.4218+22dup (STRC) MANE Select NP_714544.1:n.4218+22dup
XM_011521277.1:c.4707+22dup (STRC) XP_011519579.1:n.4707+22dup
XM_011521278.1:c.4323+22dup (STRC) XP_011519580.1:n.4323+22dup
XM_011521279.1:c.4323+22dup (STRC) XP_011519581.1:n.4323+22dup