Canonical Allele Identifier: CA2695232308
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31206613del , CM000685.2:g.31206613del GRCh38
NC_000023.10:g.31224730del , CM000685.1:g.31224730del GRCh37
NC_000023.9:g.31134651del NCBI36
NG_012232.1:g.2137997del , LRG_199:g.2137997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.4464del ENSP00000350765.3:p.Cys1489ValfsTer?
ENST00000680162.2:c.414del ENSP00000506634.2:p.Cys139ValfsTer?
ENST00000680768.2:c.414del ENSP00000506359.2:p.Cys139ValfsTer?
ENST00000681989.1:n.416del
ENST00000682238.1:c.2238del ENSP00000508124.1:p.Cys747ValfsTer?
ENST00000682322.1:c.414del ENSP00000507690.1:p.Cys139ValfsTer?
ENST00000682600.1:c.414del ENSP00000507640.1:p.Cys139ValfsTer?
ENST00000682769.1:n.416del
ENST00000683509.1:n.1135del
ENST00000683675.1:n.717del
ENST00000683709.1:n.1136del
ENST00000683957.1:n.3110del
ENST00000684130.1:c.2238del ENSP00000508037.1:p.Cys747ValfsTer?
ENST00000343523.7:c.1473del ENSP00000340057.4:p.Cys492ValfsTer?
ENST00000357033.9:c.9618del MANE Select ENSP00000354923.3:p.Cys3207ValfsTer?
ENST00000619831.5:c.5586del ENSP00000479270.2:p.Cys1863ValfsTer?
ENST00000620040.5:c.2238del ENSP00000478150.2:p.Cys747ValfsTer?
ENST00000679641.1:c.414del ENSP00000506135.1:p.Cys139ValfsTer?
ENST00000680162.1:c.291del ENSP00000506634.1:p.Cys98ValfsTer?
ENST00000680355.1:c.414del ENSP00000506257.1:p.Cys139ValfsTer?
ENST00000680557.1:c.414del ENSP00000505164.1:p.Cys139ValfsTer?
ENST00000680768.1:c.357del ENSP00000506359.1:p.Cys120ValfsTer?
ENST00000680961.1:c.2238del ENSP00000506386.1:p.Cys747ValfsTer?
ENST00000681153.1:c.414del ENSP00000505124.1:p.Cys139ValfsTer?
ENST00000681334.1:c.414del ENSP00000506066.1:p.Cys139ValfsTer?
ENST00000681654.1:n.548del
ENST00000343523.6:c.1431del ENSP00000340057.3:p.Cys478ValfsTer?
ENST00000357033.8:c.9618del ENSP00000354923.3:p.Cys3207ValfsTer?
ENST00000358062.6:c.2706del ENSP00000350765.2:p.Cys903ValfsTer?
ENST00000359836.5:c.2238del ENSP00000352894.1:p.Cys747ValfsTer?
ENST00000361471.8:c.414del ENSP00000354464.4:p.Cys139ValfsTer?
ENST00000378677.6:c.9606del ENSP00000367948.2:p.Cys3203ValfsTer?
ENST00000378680.6:c.414del ENSP00000367951.2:p.Cys139ValfsTer?
ENST00000378702.8:c.414del ENSP00000367974.4:p.Cys139ValfsTer?
ENST00000378707.7:c.2238del ENSP00000367979.3:p.Cys747ValfsTer?
ENST00000378723.7:c.414del ENSP00000367997.3:p.Cys139ValfsTer?
ENST00000474231.5:c.2238del ENSP00000417123.1:p.Cys747ValfsTer?
ENST00000541735.5:c.2238del ENSP00000444119.1:p.Cys747ValfsTer?
ENST00000619831.4:c.9603del ENSP00000479270.1:p.Cys3202ValfsTer?
ENST00000620040.4:c.9615del ENSP00000478150.1:p.Cys3206ValfsTer?
NM_000109.3:c.9594del NP_000100.2:p.Cys3199ValfsTer?
NM_004006.2:c.9618del , LRG_199t1:c.9618del NP_003997.1:p.Cys3207ValfsTer?
NM_004009.3:c.9606del NP_004000.1:p.Cys3203ValfsTer?
NM_004010.3:c.9249del NP_004001.1:p.Cys3084ValfsTer?
NM_004011.3:c.5595del NP_004002.2:p.Cys1866ValfsTer?
NM_004012.3:c.5586del NP_004003.1:p.Cys1863ValfsTer?
NM_004013.2:c.2238del NP_004004.1:p.Cys747ValfsTer?
NM_004014.2:c.1431del NP_004005.1:p.Cys478ValfsTer?
NM_004015.2:c.414del NP_004006.1:p.Cys139ValfsTer?
NM_004016.2:c.414del NP_004007.1:p.Cys139ValfsTer?
NM_004017.2:c.414del NP_004008.1:p.Cys139ValfsTer?
NM_004018.2:c.414del NP_004009.1:p.Cys139ValfsTer?
NM_004019.2:c.414del NP_004010.1:p.Cys139ValfsTer?
NM_004020.3:c.2238del NP_004011.2:p.Cys747ValfsTer?
NM_004021.2:c.2238del NP_004012.1:p.Cys747ValfsTer?
NM_004022.2:c.2238del NP_004013.1:p.Cys747ValfsTer?
NM_004023.2:c.2238del NP_004014.1:p.Cys747ValfsTer?
XM_006724468.2:c.9618del XP_006724531.1:p.Cys3207ValfsTer?
XM_006724469.2:c.9594del XP_006724532.1:p.Cys3199ValfsTer?
XM_006724470.2:c.9618del XP_006724533.1:p.Cys3207ValfsTer?
XM_006724471.2:c.9618del XP_006724534.1:p.Cys3207ValfsTer?
XM_006724472.2:c.9489del XP_006724535.1:p.Cys3164ValfsTer?
XM_006724473.2:c.9480del XP_006724536.1:p.Cys3161ValfsTer?
XM_006724474.2:c.9618del XP_006724537.1:p.Cys3207ValfsTer?
XM_006724475.2:c.9618del XP_006724538.1:p.Cys3207ValfsTer?
XM_011545467.1:c.9495del XP_011543769.1:p.Cys3166ValfsTer?
XM_011545468.1:c.9618del XP_011543770.1:p.Cys3207ValfsTer?
XM_006724469.3:c.9594del XP_006724532.1:p.Cys3199ValfsTer?
XM_006724470.3:c.9618del XP_006724533.1:p.Cys3207ValfsTer?
XM_006724474.3:c.9618del XP_006724537.1:p.Cys3207ValfsTer?
XM_011545468.2:c.9618del XP_011543770.1:p.Cys3207ValfsTer?
XM_017029328.1:c.9618del XP_016884817.1:p.Cys3207ValfsTer?
XM_017029331.1:c.3792del XP_016884820.1:p.Cys1265ValfsTer?
NM_000109.4:c.9594del NP_000100.3:p.Cys3199ValfsTer?
NM_004006.3:c.9618del MANE Select NP_003997.2:p.Cys3207ValfsTer?
NM_004011.4:c.5595del NP_004002.3:p.Cys1866ValfsTer?
NM_004012.4:c.5586del NP_004003.2:p.Cys1863ValfsTer?
NM_004015.3:c.414del NP_004006.1:p.Cys139ValfsTer?
NM_004016.3:c.414del NP_004007.1:p.Cys139ValfsTer?
NM_004017.3:c.414del NP_004008.1:p.Cys139ValfsTer?
NM_004018.3:c.414del NP_004009.1:p.Cys139ValfsTer?
NM_004019.3:c.414del NP_004010.1:p.Cys139ValfsTer?
NM_004021.3:c.2238del NP_004012.2:p.Cys747ValfsTer?
NM_004023.3:c.2238del NP_004014.2:p.Cys747ValfsTer?
NM_004013.3:c.2238del NP_004004.2:p.Cys747ValfsTer?
NM_004014.3:c.1431del NP_004005.2:p.Cys478ValfsTer?
NM_004020.4:c.2238del NP_004011.3:p.Cys747ValfsTer?
NM_004022.3:c.2238del NP_004013.2:p.Cys747ValfsTer?