Canonical Allele Identifier: CA267202
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31182850C>A , CM000685.2:g.31182850C>A GRCh38
NC_000023.10:g.31200967C>A , CM000685.1:g.31200967C>A GRCh37
NC_000023.9:g.31110888C>A NCBI36
NG_012232.1:g.2161760G>T , LRG_199:g.2161760G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.9862G>T MANE Select NP_003997.2:p.Glu3288Ter
ENST00000357033.9:c.9862G>T MANE Select ENSP00000354923.3:p.Glu3288Ter
NM_000109.3:c.9838G>T NP_000100.2:p.Glu3280Ter
NM_000109.4:c.9838G>T NP_000100.3:p.Glu3280Ter
NM_004006.2:c.9862G>T , LRG_199t1:c.9862G>T NP_003997.1:p.Glu3288Ter
NM_004009.3:c.9850G>T NP_004000.1:p.Glu3284Ter
NM_004010.3:c.9493G>T NP_004001.1:p.Glu3165Ter
NM_004011.3:c.5839G>T NP_004002.2:p.Glu1947Ter
NM_004011.4:c.5839G>T NP_004002.3:p.Glu1947Ter
NM_004012.3:c.5830G>T NP_004003.1:p.Glu1944Ter
NM_004012.4:c.5830G>T NP_004003.2:p.Glu1944Ter
NM_004013.2:c.2482G>T NP_004004.1:p.Glu828Ter
NM_004013.3:c.2482G>T NP_004004.2:p.Glu828Ter
NM_004014.2:c.1675G>T NP_004005.1:p.Glu559Ter
NM_004014.3:c.1675G>T NP_004005.2:p.Glu559Ter
NM_004015.2:c.658G>T NP_004006.1:p.Glu220Ter
NM_004015.3:c.658G>T NP_004006.1:p.Glu220Ter
NM_004016.2:c.658G>T NP_004007.1:p.Glu220Ter
NM_004016.3:c.658G>T NP_004007.1:p.Glu220Ter
NM_004017.2:c.658G>T NP_004008.1:p.Glu220Ter
NM_004017.3:c.658G>T NP_004008.1:p.Glu220Ter
NM_004018.2:c.658G>T NP_004009.1:p.Glu220Ter
NM_004018.3:c.658G>T NP_004009.1:p.Glu220Ter
NM_004019.2:c.658G>T NP_004010.1:p.Glu220Ter
NM_004019.3:c.658G>T NP_004010.1:p.Glu220Ter
NM_004020.3:c.2482G>T NP_004011.2:p.Glu828Ter
NM_004020.4:c.2482G>T NP_004011.3:p.Glu828Ter
NM_004021.2:c.2482G>T NP_004012.1:p.Glu828Ter
NM_004021.3:c.2482G>T NP_004012.2:p.Glu828Ter
NM_004022.2:c.2482G>T NP_004013.1:p.Glu828Ter
NM_004022.3:c.2482G>T NP_004013.2:p.Glu828Ter
NM_004023.2:c.2482G>T NP_004014.1:p.Glu828Ter
NM_004023.3:c.2482G>T NP_004014.2:p.Glu828Ter
ENST00000343523.6:c.1675G>T ENSP00000340057.3:p.Glu559Ter
ENST00000343523.7:c.1717G>T ENSP00000340057.4:p.Glu573Ter
ENST00000357033.8:c.9862G>T ENSP00000354923.3:p.Glu3288Ter
ENST00000358062.6:c.2950G>T ENSP00000350765.2:p.Glu984Ter
ENST00000358062.7:c.4708G>T ENSP00000350765.3:p.Glu1570Ter
ENST00000359836.5:c.2482G>T ENSP00000352894.1:p.Glu828Ter
ENST00000361471.8:c.658G>T ENSP00000354464.4:p.Glu220Ter
ENST00000378677.6:c.9850G>T ENSP00000367948.2:p.Glu3284Ter
ENST00000378680.6:c.658G>T ENSP00000367951.2:p.Glu220Ter
ENST00000378702.8:c.658G>T ENSP00000367974.4:p.Glu220Ter
ENST00000378705.3:c.232G>T ENSP00000367977.3:p.Glu78Ter
ENST00000378707.7:c.2482G>T ENSP00000367979.3:p.Glu828Ter
ENST00000378723.7:c.658G>T ENSP00000367997.3:p.Glu220Ter
ENST00000474231.5:c.2482G>T ENSP00000417123.1:p.Glu828Ter
ENST00000475732.1:n.78G>T
ENST00000475732.2:n.228G>T
ENST00000541735.5:c.2482G>T ENSP00000444119.1:p.Glu828Ter
ENST00000619831.4:c.9847G>T ENSP00000479270.1:p.Glu3283Ter
ENST00000619831.5:c.5830G>T ENSP00000479270.2:p.Glu1944Ter
ENST00000620040.4:c.9859G>T ENSP00000478150.1:p.Glu3287Ter
ENST00000620040.5:c.2482G>T ENSP00000478150.2:p.Glu828Ter
ENST00000679641.1:c.604-2369G>T ENSP00000506135.1:n.604-2369G>T
ENST00000680162.1:c.535G>T ENSP00000506634.1:p.Glu179Ter
ENST00000680162.2:c.658G>T ENSP00000506634.2:p.Glu220Ter
ENST00000680355.1:c.658G>T ENSP00000506257.1:p.Glu220Ter
ENST00000680557.1:c.603+21111G>T ENSP00000505164.1:n.603+21111G>T
ENST00000680768.1:c.601G>T ENSP00000506359.1:p.Glu201Ter
ENST00000680768.2:c.658G>T ENSP00000506359.2:p.Glu220Ter
ENST00000680961.1:c.2428-2369G>T ENSP00000506386.1:n.2428-2369G>T
ENST00000681153.1:c.658G>T ENSP00000505124.1:p.Glu220Ter
ENST00000681654.1:n.792G>T
ENST00000681989.1:n.660G>T
ENST00000682238.1:c.2482G>T ENSP00000508124.1:p.Glu828Ter
ENST00000682322.1:c.658G>T ENSP00000507690.1:p.Glu220Ter
ENST00000682600.1:c.658G>T ENSP00000507640.1:p.Glu220Ter
ENST00000682769.1:n.606-2369G>T
ENST00000683509.1:n.1379G>T
ENST00000683675.1:n.961G>T
ENST00000683709.1:n.1380G>T
ENST00000683957.1:n.3354G>T
ENST00000684130.1:c.2482G>T ENSP00000508037.1:p.Glu828Ter
XM_006724468.2:c.9862G>T XP_006724531.1:p.Glu3288Ter
XM_006724469.2:c.9838G>T XP_006724532.1:p.Glu3280Ter
XM_006724469.3:c.9838G>T XP_006724532.1:p.Glu3280Ter
XM_006724470.2:c.9862G>T XP_006724533.1:p.Glu3288Ter
XM_006724470.3:c.9862G>T XP_006724533.1:p.Glu3288Ter
XM_006724471.2:c.9862G>T XP_006724534.1:p.Glu3288Ter
XM_006724472.2:c.9733G>T XP_006724535.1:p.Glu3245Ter
XM_006724473.2:c.9724G>T XP_006724536.1:p.Glu3242Ter
XM_006724474.2:c.9862G>T XP_006724537.1:p.Glu3288Ter
XM_006724474.3:c.9862G>T XP_006724537.1:p.Glu3288Ter
XM_006724475.2:c.9862G>T XP_006724538.1:p.Glu3288Ter
XM_011545467.1:c.9739G>T XP_011543769.1:p.Glu3247Ter
XM_017029328.1:c.9862G>T XP_016884817.1:p.Glu3288Ter
XM_017029331.1:c.4036G>T XP_016884820.1:p.Glu1346Ter