Canonical Allele Identifier: CA2695234099
Community Standard Title: NM_004006.3(DMD):c.5028del (p.Glu1676AspfsTer?)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32364709del , CM000685.2:g.32364709del GRCh38
NC_000023.10:g.32382826del , CM000685.1:g.32382826del GRCh37
NC_000023.9:g.32292747del NCBI36
NG_012232.1:g.979902del , LRG_199:g.979902del

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.5028del MANE Select NP_003997.2:p.Glu1676AspfsTer?
ENST00000357033.9:c.5028del MANE Select ENSP00000354923.3:p.Glu1676AspfsTer?
NM_000109.3:c.5004del NP_000100.2:p.Glu1668AspfsTer?
NM_000109.4:c.5004del NP_000100.3:p.Glu1668AspfsTer?
NM_004006.2:c.5028del , LRG_199t1:c.5028del NP_003997.1:p.Glu1676AspfsTer?
NM_004009.3:c.5016del NP_004000.1:p.Glu1672AspfsTer?
NM_004010.3:c.4659del NP_004001.1:p.Glu1553AspfsTer?
NM_004011.3:c.1005del NP_004002.2:p.Glu335AspfsTer?
NM_004011.4:c.1005del NP_004002.3:p.Glu335AspfsTer?
NM_004012.3:c.996del NP_004003.1:p.Glu332AspfsTer?
NM_004012.4:c.996del NP_004003.2:p.Glu332AspfsTer?
ENST00000357033.8:c.5028del ENSP00000354923.3:p.Glu1676AspfsTer?
ENST00000378677.6:c.5016del ENSP00000367948.2:p.Glu1672AspfsTer?
ENST00000420596.5:c.276del ENSP00000399897.1:p.Glu92AspfsTer?
ENST00000448370.5:c.96del ENSP00000388559.1:p.Glu32AspfsTer?
ENST00000488902.5:n.336-147645del
ENST00000619831.4:c.5016del ENSP00000479270.1:p.Glu1672AspfsTer?
ENST00000619831.5:c.996del ENSP00000479270.2:p.Glu332AspfsTer?
ENST00000620040.4:c.5028del ENSP00000478150.1:p.Glu1676AspfsTer?
XM_006724468.2:c.5028del XP_006724531.1:p.Glu1676AspfsTer?
XM_006724469.2:c.5004del XP_006724532.1:p.Glu1668AspfsTer?
XM_006724469.3:c.5004del XP_006724532.1:p.Glu1668AspfsTer?
XM_006724470.2:c.5028del XP_006724533.1:p.Glu1676AspfsTer?
XM_006724470.3:c.5028del XP_006724533.1:p.Glu1676AspfsTer?
XM_006724471.2:c.5028del XP_006724534.1:p.Glu1676AspfsTer?
XM_006724472.2:c.4899del XP_006724535.1:p.Glu1633AspfsTer?
XM_006724473.2:c.5028del XP_006724536.1:p.Glu1676AspfsTer?
XM_006724474.2:c.5028del XP_006724537.1:p.Glu1676AspfsTer?
XM_006724474.3:c.5028del XP_006724537.1:p.Glu1676AspfsTer?
XM_006724475.2:c.5028del XP_006724538.1:p.Glu1676AspfsTer?
XM_011545467.1:c.5028del XP_011543769.1:p.Glu1676AspfsTer?
XM_011545468.1:c.5028del XP_011543770.1:p.Glu1676AspfsTer?
XM_011545468.2:c.5028del XP_011543770.1:p.Glu1676AspfsTer?
XM_011545469.1:c.5028del XP_011543771.1:p.Glu1676AspfsTer?
XM_017029328.1:c.5028del XP_016884817.1:p.Glu1676AspfsTer?
XM_017029329.1:c.5028del XP_016884818.1:p.Glu1676AspfsTer?
XM_017029330.2:c.5028del XP_016884819.1:p.Glu1676AspfsTer?