Canonical Allele Identifier: CA9909198
Community Standard Title: NM_003859.3(DPM1):c.182del (p.Ile61LysfsTer3)
Gene: DPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50955265del , CM000682.2:g.50955265del GRCh38
NC_000020.10:g.49571802del , CM000682.1:g.49571802del GRCh37
NC_000020.9:g.49005209del NCBI36
NG_008923.1:g.8259del

Transcript Alleles

HGVS Amino-acid Change
NM_003859.3:c.182del MANE Select NP_003850.1:p.Ile61LysfsTer3
ENST00000371588.10:c.182del MANE Select ENSP00000360644.5:p.Ile61LysfsTer3
NM_001317034.1:c.182del NP_001303963.1:p.Ile61LysfsTer3
NM_001317035.1:c.182del NP_001303964.1:p.Ile61LysfsTer3
NM_001317036.1:c.182del NP_001303965.1:p.Ile61LysfsTer3
NM_003859.1:c.182del NP_003850.1:p.Ile61LysfsTer3
NM_003859.2:c.182del NP_003850.1:p.Ile61LysfsTer3
NR_133648.1:n.223del
NR_133648.2:n.191del
ENST00000371582.8:c.182del ENSP00000360638.4:p.Ile61LysfsTer3
ENST00000371584.8:c.180del
ENST00000371584.9:c.182del ENSP00000360640.5:p.Ile61LysfsTer3
ENST00000371588.9:c.182del ENSP00000360644.5:p.Ile61LysfsTer3
ENST00000413082.1:c.182del ENSP00000394921.1:p.Ile61LysfsTer3
ENST00000466152.5:n.209del
ENST00000681979.1:n.76del
ENST00000682754.1:n.180del
ENST00000683010.1:n.1889del
ENST00000683048.1:c.182del ENSP00000506986.1:p.Ile61LysfsTer3
ENST00000683466.1:c.-134del ENSP00000507404.1:n.-134del
ENST00000684628.1:n.191del
ENST00000684708.1:n.111del
XM_011529093.1:c.182del XP_011527395.1:p.Ile61LysfsTer3
XM_011529094.1:c.182del XP_011527396.1:p.Ile61LysfsTer3
XR_002958550.1:n.220del
XR_002958551.1:n.221del