Canonical Allele Identifier: CA2579579131
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31774168_31774169del , CM000685.2:g.31774168_31774169del GRCh38
NC_000023.10:g.31792285_31792286del , CM000685.1:g.31792285_31792286del GRCh37
NC_000023.9:g.31702206_31702207del NCBI36
NG_012232.1:g.1570442_1570443del , LRG_199:g.1570442_1570443del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.2180_2181del ENSP00000350765.3:p.Val727AspfsTer7
ENST00000682238.1:c.-47_-46del ENSP00000508124.1:n.-47_-46del
ENST00000683117.1:n.995_996del
ENST00000683450.1:n.917_918del
ENST00000683851.1:n.995_996del
ENST00000683957.1:n.826_827del
ENST00000684130.1:c.-47_-46del ENSP00000508037.1:n.-47_-46del
ENST00000357033.9:c.7334_7335del MANE Select ENSP00000354923.3:p.Val2445AspfsTer7
ENST00000619831.5:c.3302_3303del ENSP00000479270.2:p.Val1101AspfsTer7
ENST00000620040.5:c.-47_-46del ENSP00000478150.2:n.-47_-46del
ENST00000680961.1:c.-47_-46del ENSP00000506386.1:n.-47_-46del
ENST00000681646.1:n.995_996del
ENST00000681839.1:c.323_324del ENSP00000505228.1:p.Val108AspfsTer7
ENST00000357033.8:c.7334_7335del ENSP00000354923.3:p.Val2445AspfsTer7
ENST00000358062.6:c.422_423del ENSP00000350765.2:p.Val141AspfsTer7
ENST00000359836.5:c.-47_-46del ENSP00000352894.1:n.-47_-46del
ENST00000378677.6:c.7322_7323del ENSP00000367948.2:p.Val2441AspfsTer7
ENST00000378707.7:c.-47_-46del ENSP00000367979.3:n.-47_-46del
ENST00000471779.1:c.91_92del ENSP00000417075.1:p.Ter31ThrextTer?
ENST00000474231.5:c.-47_-46del ENSP00000417123.1:n.-47_-46del
ENST00000541735.5:c.-47_-46del ENSP00000444119.1:n.-47_-46del
ENST00000619831.4:c.7319_7320del ENSP00000479270.1:p.Val2440AspfsTer7
ENST00000620040.4:c.7331_7332del ENSP00000478150.1:p.Val2444AspfsTer7
NM_000109.3:c.7310_7311del NP_000100.2:p.Val2437AspfsTer7
NM_004006.2:c.7334_7335del , LRG_199t1:c.7334_7335del NP_003997.1:p.Val2445AspfsTer7
NM_004009.3:c.7322_7323del NP_004000.1:p.Val2441AspfsTer7
NM_004010.3:c.6965_6966del NP_004001.1:p.Val2322AspfsTer7
NM_004011.3:c.3311_3312del NP_004002.2:p.Val1104AspfsTer7
NM_004012.3:c.3302_3303del NP_004003.1:p.Val1101AspfsTer7
NM_004013.2:c.-47_-46del NP_004004.1:n.-47_-46del
NM_004020.3:c.-47_-46del NP_004011.2:n.-47_-46del
NM_004021.2:c.-47_-46del NP_004012.1:n.-47_-46del
NM_004022.2:c.-47_-46del NP_004013.1:n.-47_-46del
NM_004023.2:c.-47_-46del NP_004014.1:n.-47_-46del
XM_006724468.2:c.7334_7335del XP_006724531.1:p.Val2445AspfsTer7
XM_006724469.2:c.7310_7311del XP_006724532.1:p.Val2437AspfsTer7
XM_006724470.2:c.7334_7335del XP_006724533.1:p.Val2445AspfsTer7
XM_006724471.2:c.7334_7335del XP_006724534.1:p.Val2445AspfsTer7
XM_006724472.2:c.7205_7206del XP_006724535.1:p.Val2402AspfsTer7
XM_006724473.2:c.7196_7197del XP_006724536.1:p.Val2399AspfsTer7
XM_006724474.2:c.7334_7335del XP_006724537.1:p.Val2445AspfsTer7
XM_006724475.2:c.7334_7335del XP_006724538.1:p.Val2445AspfsTer7
XM_011545467.1:c.7211_7212del XP_011543769.1:p.Val2404AspfsTer7
XM_011545468.1:c.7334_7335del XP_011543770.1:p.Val2445AspfsTer7
XM_006724469.3:c.7310_7311del XP_006724532.1:p.Val2437AspfsTer7
XM_006724470.3:c.7334_7335del XP_006724533.1:p.Val2445AspfsTer7
XM_006724474.3:c.7334_7335del XP_006724537.1:p.Val2445AspfsTer7
XM_011545468.2:c.7334_7335del XP_011543770.1:p.Val2445AspfsTer7
XM_017029328.1:c.7334_7335del XP_016884817.1:p.Val2445AspfsTer7
XM_017029331.1:c.1508_1509del XP_016884820.1:p.Val503AspfsTer7
NM_000109.4:c.7310_7311del NP_000100.3:p.Val2437AspfsTer7
NM_004006.3:c.7334_7335del MANE Select NP_003997.2:p.Val2445AspfsTer7
NM_004011.4:c.3311_3312del NP_004002.3:p.Val1104AspfsTer7
NM_004012.4:c.3302_3303del NP_004003.2:p.Val1101AspfsTer7
NM_004021.3:c.-47_-46del NP_004012.2:n.-47_-46del
NM_004023.3:c.-47_-46del NP_004014.2:n.-47_-46del
NM_004013.3:c.-47_-46del NP_004004.2:n.-47_-46del
NM_004020.4:c.-47_-46del NP_004011.3:n.-47_-46del
NM_004022.3:c.-47_-46del NP_004013.2:n.-47_-46del