Canonical Allele Identifier: CA2695231773
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31178724dup , CM000685.2:g.31178724dup GRCh38
NC_000023.10:g.31196841dup , CM000685.1:g.31196841dup GRCh37
NC_000023.9:g.31106762dup NCBI36
NG_012232.1:g.2165889dup , LRG_199:g.2165889dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.5017dup ENSP00000350765.3:p.Arg1673ProfsTer29
ENST00000475732.3:n.2518dup
ENST00000680162.2:c.967dup ENSP00000506634.2:p.Arg323ProfsTer?
ENST00000680768.2:c.967dup ENSP00000506359.2:p.Arg323ProfsTer29
ENST00000681989.1:n.969dup
ENST00000682238.1:c.2791dup ENSP00000508124.1:p.Arg931ProfsTer25
ENST00000682322.1:c.967dup ENSP00000507690.1:p.Arg323ProfsTer?
ENST00000682600.1:c.967dup ENSP00000507640.1:p.Arg323ProfsTer29
ENST00000682769.1:n.802dup
ENST00000683509.1:n.1688dup
ENST00000683675.1:n.1270dup
ENST00000683709.1:n.1689dup
ENST00000683957.1:n.3663dup
ENST00000684130.1:c.2791dup ENSP00000508037.1:p.Arg931ProfsTer29
ENST00000343523.7:c.2026dup ENSP00000340057.4:p.Arg676ProfsTer?
ENST00000357033.9:c.10171dup MANE Select ENSP00000354923.3:p.Arg3391ProfsTer?
ENST00000475732.2:n.537dup
ENST00000619831.5:c.6139dup ENSP00000479270.2:p.Arg2047ProfsTer?
ENST00000620040.5:c.2791dup ENSP00000478150.2:p.Arg931ProfsTer29
ENST00000679641.1:c.*173dup ENSP00000506135.1:n.*173dup
ENST00000679706.1:c.128dup
ENST00000680162.1:c.844dup ENSP00000506634.1:p.Arg282ProfsTer?
ENST00000680355.1:c.967dup ENSP00000506257.1:p.Arg323ProfsTer25
ENST00000680557.1:c.603+25240dup ENSP00000505164.1:n.603+25240dup
ENST00000680768.1:c.910dup ENSP00000506359.1:p.Arg304ProfsTer29
ENST00000680961.1:c.*173dup ENSP00000506386.1:n.*173dup
ENST00000681153.1:c.967dup ENSP00000505124.1:p.Arg323ProfsTer29
ENST00000681654.1:n.1101dup
ENST00000343523.6:c.1984dup ENSP00000340057.3:p.Arg662ProfsTer?
ENST00000357033.8:c.10171dup ENSP00000354923.3:p.Arg3391ProfsTer?
ENST00000358062.6:c.3259dup ENSP00000350765.2:p.Arg1087ProfsTer29
ENST00000359836.5:c.2791dup ENSP00000352894.1:p.Arg931ProfsTer29
ENST00000361471.8:c.967dup ENSP00000354464.4:p.Arg323ProfsTer29
ENST00000378677.6:c.10159dup ENSP00000367948.2:p.Arg3387ProfsTer?
ENST00000378680.6:c.967dup ENSP00000367951.2:p.Arg323ProfsTer25
ENST00000378702.8:c.967dup ENSP00000367974.4:p.Arg323ProfsTer?
ENST00000378705.3:c.541dup ENSP00000367977.3:p.Arg181ProfsTer?
ENST00000378707.7:c.2791dup ENSP00000367979.3:p.Arg931ProfsTer?
ENST00000378723.7:c.967dup ENSP00000367997.3:p.Arg323ProfsTer?
ENST00000474231.5:c.2791dup ENSP00000417123.1:p.Arg931ProfsTer?
ENST00000475732.1:n.387dup
ENST00000541735.5:c.2791dup ENSP00000444119.1:p.Arg931ProfsTer25
ENST00000619831.4:c.10156dup ENSP00000479270.1:p.Arg3386ProfsTer?
ENST00000620040.4:c.10168dup ENSP00000478150.1:p.Arg3390ProfsTer?
NM_000109.3:c.10147dup NP_000100.2:p.Arg3383ProfsTer?
NM_004006.2:c.10171dup , LRG_199t1:c.10171dup NP_003997.1:p.Arg3391ProfsTer?
NM_004009.3:c.10159dup NP_004000.1:p.Arg3387ProfsTer?
NM_004010.3:c.9802dup NP_004001.1:p.Arg3268ProfsTer?
NM_004011.3:c.6148dup NP_004002.2:p.Arg2050ProfsTer?
NM_004012.3:c.6139dup NP_004003.1:p.Arg2047ProfsTer?
NM_004013.2:c.2791dup NP_004004.1:p.Arg931ProfsTer?
NM_004014.2:c.1984dup NP_004005.1:p.Arg662ProfsTer?
NM_004015.2:c.967dup NP_004006.1:p.Arg323ProfsTer?
NM_004016.2:c.967dup NP_004007.1:p.Arg323ProfsTer?
NM_004017.2:c.967dup NP_004008.1:p.Arg323ProfsTer29
NM_004018.2:c.967dup NP_004009.1:p.Arg323ProfsTer29
NM_004019.2:c.967dup NP_004010.1:p.Arg323ProfsTer?
NM_004020.3:c.2791dup NP_004011.2:p.Arg931ProfsTer25
NM_004021.2:c.2791dup NP_004012.1:p.Arg931ProfsTer?
NM_004022.2:c.2791dup NP_004013.1:p.Arg931ProfsTer29
NM_004023.2:c.2791dup NP_004014.1:p.Arg931ProfsTer25
XM_006724468.2:c.10171dup XP_006724531.1:p.Arg3391ProfsTer?
XM_006724469.2:c.10147dup XP_006724532.1:p.Arg3383ProfsTer?
XM_006724470.2:c.10171dup XP_006724533.1:p.Arg3391ProfsTer29
XM_006724471.2:c.10171dup XP_006724534.1:p.Arg3391ProfsTer?
XM_006724472.2:c.10042dup XP_006724535.1:p.Arg3348ProfsTer?
XM_006724473.2:c.10033dup XP_006724536.1:p.Arg3345ProfsTer?
XM_006724474.2:c.10171dup XP_006724537.1:p.Arg3391ProfsTer25
XM_006724475.2:c.10171dup XP_006724538.1:p.Arg3391ProfsTer25
XM_011545467.1:c.10048dup XP_011543769.1:p.Arg3350ProfsTer?
XM_006724469.3:c.10147dup XP_006724532.1:p.Arg3383ProfsTer?
XM_006724470.3:c.10171dup XP_006724533.1:p.Arg3391ProfsTer29
XM_006724474.3:c.10171dup XP_006724537.1:p.Arg3391ProfsTer25
XM_017029328.1:c.10171dup XP_016884817.1:p.Arg3391ProfsTer29
XM_017029331.1:c.4345dup XP_016884820.1:p.Arg1449ProfsTer?
NM_000109.4:c.10147dup NP_000100.3:p.Arg3383ProfsTer?
NM_004006.3:c.10171dup MANE Select NP_003997.2:p.Arg3391ProfsTer?
NM_004011.4:c.6148dup NP_004002.3:p.Arg2050ProfsTer?
NM_004012.4:c.6139dup NP_004003.2:p.Arg2047ProfsTer?
NM_004015.3:c.967dup NP_004006.1:p.Arg323ProfsTer?
NM_004016.3:c.967dup NP_004007.1:p.Arg323ProfsTer?
NM_004017.3:c.967dup NP_004008.1:p.Arg323ProfsTer29
NM_004018.3:c.967dup NP_004009.1:p.Arg323ProfsTer29
NM_004019.3:c.967dup NP_004010.1:p.Arg323ProfsTer?
NM_004021.3:c.2791dup NP_004012.2:p.Arg931ProfsTer?
NM_004023.3:c.2791dup NP_004014.2:p.Arg931ProfsTer25
NM_004013.3:c.2791dup NP_004004.2:p.Arg931ProfsTer?
NM_004014.3:c.1984dup NP_004005.2:p.Arg662ProfsTer?
NM_004020.4:c.2791dup NP_004011.3:p.Arg931ProfsTer25
NM_004022.3:c.2791dup NP_004013.2:p.Arg931ProfsTer29