Canonical Allele Identifier: CA412648931
Community Standard Title: NM_004006.3(DMD):c.10813A>T (p.Lys3605Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31146399T>A , CM000685.2:g.31146399T>A GRCh38
NC_000023.10:g.31164516T>A , CM000685.1:g.31164516T>A GRCh37
NC_000023.9:g.31074437T>A NCBI36
NG_012232.1:g.2198211A>T , LRG_199:g.2198211A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.10813A>T MANE Select NP_003997.2:p.Lys3605Ter
ENST00000357033.9:c.10813A>T MANE Select ENSP00000354923.3:p.Lys3605Ter
NM_000109.3:c.10789A>T NP_000100.2:p.Lys3597Ter
NM_000109.4:c.10789A>T NP_000100.3:p.Lys3597Ter
NM_004006.2:c.10813A>T , LRG_199t1:c.10813A>T NP_003997.1:p.Lys3605Ter
NM_004009.3:c.10801A>T NP_004000.1:p.Lys3601Ter
NM_004010.3:c.10444A>T NP_004001.1:p.Lys3482Ter
NM_004011.3:c.6790A>T NP_004002.2:p.Lys2264Ter
NM_004011.4:c.6790A>T NP_004002.3:p.Lys2264Ter
NM_004012.3:c.6781A>T NP_004003.1:p.Lys2261Ter
NM_004012.4:c.6781A>T NP_004003.2:p.Lys2261Ter
NM_004013.2:c.3433A>T NP_004004.1:p.Lys1145Ter
NM_004013.3:c.3433A>T NP_004004.2:p.Lys1145Ter
NM_004014.2:c.2626A>T NP_004005.1:p.Lys876Ter
NM_004014.3:c.2626A>T NP_004005.2:p.Lys876Ter
NM_004015.2:c.1609A>T NP_004006.1:p.Lys537Ter
NM_004015.3:c.1609A>T NP_004006.1:p.Lys537Ter
NM_004016.2:c.1609A>T NP_004007.1:p.Lys537Ter
NM_004016.3:c.1609A>T NP_004007.1:p.Lys537Ter
NM_004017.2:c.1570A>T NP_004008.1:p.Lys524Ter
NM_004017.3:c.1570A>T NP_004008.1:p.Lys524Ter
NM_004018.2:c.1570A>T NP_004009.1:p.Lys524Ter
NM_004018.3:c.1570A>T NP_004009.1:p.Lys524Ter
NM_004020.3:c.3103A>T NP_004011.2:p.Lys1035Ter
NM_004020.4:c.3103A>T NP_004011.3:p.Lys1035Ter
NM_004021.2:c.3433A>T NP_004012.1:p.Lys1145Ter
NM_004021.3:c.3433A>T NP_004012.2:p.Lys1145Ter
NM_004022.2:c.3394A>T NP_004013.1:p.Lys1132Ter
NM_004022.3:c.3394A>T NP_004013.2:p.Lys1132Ter
NM_004023.2:c.3103A>T NP_004014.1:p.Lys1035Ter
NM_004023.3:c.3103A>T NP_004014.2:p.Lys1035Ter
ENST00000343523.6:c.2626A>T ENSP00000340057.3:p.Lys876Ter
ENST00000343523.7:c.2668A>T ENSP00000340057.4:p.Lys890Ter
ENST00000357033.8:c.10813A>T ENSP00000354923.3:p.Lys3605Ter
ENST00000358062.6:c.3862A>T ENSP00000350765.2:p.Lys1288Ter
ENST00000358062.7:c.5620A>T ENSP00000350765.3:p.Lys1874Ter
ENST00000359836.5:c.3394A>T ENSP00000352894.1:p.Lys1132Ter
ENST00000361471.8:c.1570A>T ENSP00000354464.4:p.Lys524Ter
ENST00000378677.6:c.10801A>T ENSP00000367948.2:p.Lys3601Ter
ENST00000378680.6:c.1279A>T ENSP00000367951.2:p.Lys427Ter
ENST00000378702.8:c.1609A>T ENSP00000367974.4:p.Lys537Ter
ENST00000378707.7:c.3433A>T ENSP00000367979.3:p.Lys1145Ter
ENST00000378723.7:c.1609A>T ENSP00000367997.3:p.Lys537Ter
ENST00000474231.5:c.3433A>T ENSP00000417123.1:p.Lys1145Ter
ENST00000481143.2:n.114+23044A>T
ENST00000541735.5:c.3103A>T ENSP00000444119.1:p.Lys1035Ter
ENST00000619831.4:c.10798A>T ENSP00000479270.1:p.Lys3600Ter
ENST00000619831.5:c.6781A>T ENSP00000479270.2:p.Lys2261Ter
ENST00000620040.4:c.10810A>T ENSP00000478150.1:p.Lys3604Ter
ENST00000620040.5:c.3335+919A>T ENSP00000478150.2:n.3335+919A>T
ENST00000679437.1:c.475A>T ENSP00000506629.1:p.Lys159Ter
ENST00000679641.1:c.*485A>T ENSP00000506135.1:n.*485A>T
ENST00000679706.1:c.440A>T
ENST00000679850.1:n.5824A>T
ENST00000680162.1:c.1486A>T ENSP00000506634.1:p.Lys496Ter
ENST00000680162.2:c.1504A>T ENSP00000506634.2:p.Lys502Ter
ENST00000680355.1:c.1279A>T ENSP00000506257.1:p.Lys427Ter
ENST00000680557.1:c.604-12205A>T ENSP00000505164.1:n.604-12205A>T
ENST00000680701.1:n.588A>T
ENST00000680768.1:c.1513A>T ENSP00000506359.1:p.Lys505Ter
ENST00000680768.2:c.1555-45A>T ENSP00000506359.2:n.1555-45A>T
ENST00000680961.1:c.*776A>T ENSP00000506386.1:n.*776A>T
ENST00000681026.1:c.475A>T ENSP00000506689.1:p.Lys159Ter
ENST00000681153.1:c.1570A>T ENSP00000505124.1:p.Lys524Ter
ENST00000681989.1:n.1611A>T
ENST00000682207.1:n.933A>T
ENST00000682238.1:c.3103A>T ENSP00000508124.1:p.Lys1035Ter
ENST00000682322.1:c.1504A>T ENSP00000507690.1:p.Lys502Ter
ENST00000682600.1:c.1570A>T ENSP00000507640.1:p.Lys524Ter
ENST00000682746.1:n.203A>T
ENST00000682769.1:n.1405A>T
ENST00000683503.1:n.2628A>T
ENST00000683509.1:n.2291A>T
ENST00000683675.1:n.1912A>T
ENST00000683709.1:n.2292A>T
ENST00000683995.1:n.958A>T
ENST00000684072.1:n.1042A>T
ENST00000684103.1:n.1221A>T
ENST00000684130.1:c.3394A>T ENSP00000508037.1:p.Lys1132Ter
ENST00000684247.1:n.285A>T
ENST00000684342.1:n.1857A>T
ENST00000684350.1:n.2628A>T
XM_006724468.2:c.10813A>T XP_006724531.1:p.Lys3605Ter
XM_006724469.2:c.10789A>T XP_006724532.1:p.Lys3597Ter
XM_006724469.3:c.10789A>T XP_006724532.1:p.Lys3597Ter
XM_006724470.2:c.10774A>T XP_006724533.1:p.Lys3592Ter
XM_006724470.3:c.10774A>T XP_006724533.1:p.Lys3592Ter
XM_006724471.2:c.10708A>T XP_006724534.1:p.Lys3570Ter
XM_006724472.2:c.10684A>T XP_006724535.1:p.Lys3562Ter
XM_006724473.2:c.10675A>T XP_006724536.1:p.Lys3559Ter
XM_006724474.2:c.10483A>T XP_006724537.1:p.Lys3495Ter
XM_006724474.3:c.10483A>T XP_006724537.1:p.Lys3495Ter
XM_006724475.2:c.10483A>T XP_006724538.1:p.Lys3495Ter
XM_011545467.1:c.10690A>T XP_011543769.1:p.Lys3564Ter
XM_017029328.1:c.10774A>T XP_016884817.1:p.Lys3592Ter
XM_017029331.1:c.4987A>T XP_016884820.1:p.Lys1663Ter