Canonical Allele Identifier: CA412654940
Community Standard Title: NM_004006.3(DMD):c.11046+2T>C
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31126640A>G , CM000685.2:g.31126640A>G GRCh38
NC_000023.10:g.31144757A>G , CM000685.1:g.31144757A>G GRCh37
NC_000023.9:g.31054678A>G NCBI36
NG_012232.1:g.2217970T>C , LRG_199:g.2217970T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.11046+2T>C MANE Select NP_003997.2:n.11046+2T>C
ENST00000357033.9:c.11046+2T>C MANE Select ENSP00000354923.3:n.11046+2T>C
NM_000109.3:c.11022+2T>C NP_000100.2:n.11022+2T>C
NM_000109.4:c.11022+2T>C NP_000100.3:n.11022+2T>C
NM_004006.2:c.11046+2T>C , LRG_199t1:c.11046+2T>C NP_003997.1:n.11046+2T>C
NM_004009.3:c.11034+2T>C NP_004000.1:n.11034+2T>C
NM_004010.3:c.10677+2T>C NP_004001.1:n.10677+2T>C
NM_004011.3:c.7023+2T>C NP_004002.2:n.7023+2T>C
NM_004011.4:c.7023+2T>C NP_004002.3:n.7023+2T>C
NM_004012.3:c.7014+2T>C NP_004003.1:n.7014+2T>C
NM_004012.4:c.7014+2T>C NP_004003.2:n.7014+2T>C
NM_004013.2:c.3666+2T>C NP_004004.1:n.3666+2T>C
NM_004013.3:c.3666+2T>C NP_004004.2:n.3666+2T>C
NM_004014.2:c.2859+2T>C NP_004005.1:n.2859+2T>C
NM_004014.3:c.2859+2T>C NP_004005.2:n.2859+2T>C
NM_004015.2:c.1842+2T>C NP_004006.1:n.1842+2T>C
NM_004015.3:c.1842+2T>C NP_004006.1:n.1842+2T>C
NM_004016.2:c.1811-4710T>C NP_004007.1:n.1811-4710T>C
NM_004016.3:c.1811-4710T>C NP_004007.1:n.1811-4710T>C
NM_004017.2:c.1803+2T>C NP_004008.1:n.1803+2T>C
NM_004017.3:c.1803+2T>C NP_004008.1:n.1803+2T>C
NM_004018.2:c.1772-4710T>C NP_004009.1:n.1772-4710T>C
NM_004018.3:c.1772-4710T>C NP_004009.1:n.1772-4710T>C
NM_004020.3:c.3336+2T>C NP_004011.2:n.3336+2T>C
NM_004020.4:c.3336+2T>C NP_004011.3:n.3336+2T>C
NM_004021.2:c.3635-4710T>C NP_004012.1:n.3635-4710T>C
NM_004021.3:c.3635-4710T>C NP_004012.2:n.3635-4710T>C
NM_004022.2:c.3596-4710T>C NP_004013.1:n.3596-4710T>C
NM_004022.3:c.3596-4710T>C NP_004013.2:n.3596-4710T>C
NM_004023.2:c.3305-4710T>C NP_004014.1:n.3305-4710T>C
NM_004023.3:c.3305-4710T>C NP_004014.2:n.3305-4710T>C
ENST00000343523.6:c.2859+2T>C ENSP00000340057.3:n.2859+2T>C
ENST00000343523.7:c.2901+2T>C ENSP00000340057.4:n.2901+2T>C
ENST00000357033.8:c.11046+2T>C ENSP00000354923.3:n.11046+2T>C
ENST00000358062.6:c.4064-4710T>C ENSP00000350765.2:n.4064-4710T>C
ENST00000358062.7:c.5822-4710T>C ENSP00000350765.3:n.5822-4710T>C
ENST00000359836.5:c.3596-4710T>C ENSP00000352894.1:n.3596-4710T>C
ENST00000361471.8:c.1772-4710T>C ENSP00000354464.4:n.1772-4710T>C
ENST00000378677.6:c.11034+2T>C ENSP00000367948.2:n.11034+2T>C
ENST00000378680.6:c.1481-4710T>C ENSP00000367951.2:n.1481-4710T>C
ENST00000378702.8:c.1842+2T>C ENSP00000367974.4:n.1842+2T>C
ENST00000378707.7:c.3666+2T>C ENSP00000367979.3:n.3666+2T>C
ENST00000378723.7:c.1811-4710T>C ENSP00000367997.3:n.1811-4710T>C
ENST00000474231.5:c.3635-4710T>C ENSP00000417123.1:n.3635-4710T>C
ENST00000481143.2:n.115-28457T>C
ENST00000541735.5:c.3336+2T>C ENSP00000444119.1:n.3336+2T>C
ENST00000619831.4:c.11031+2T>C ENSP00000479270.1:n.11031+2T>C
ENST00000619831.5:c.7014+2T>C ENSP00000479270.2:n.7014+2T>C
ENST00000620040.4:c.11043+2T>C ENSP00000478150.1:n.11043+2T>C
ENST00000620040.5:c.3367+2T>C ENSP00000478150.2:n.3367+2T>C
ENST00000679437.1:c.677-4710T>C ENSP00000506629.1:n.677-4710T>C
ENST00000679482.1:n.589-4710T>C
ENST00000679641.1:c.*687-4710T>C ENSP00000506135.1:n.*687-4710T>C
ENST00000679669.1:n.156+2T>C
ENST00000679706.1:c.760+2T>C
ENST00000679850.1:n.6057+2T>C
ENST00000680162.1:c.1688-4710T>C ENSP00000506634.1:n.1688-4710T>C
ENST00000680162.2:c.1706-4710T>C ENSP00000506634.2:n.1706-4710T>C
ENST00000680355.1:c.1512+2T>C ENSP00000506257.1:n.1512+2T>C
ENST00000680557.1:c.*46-4710T>C ENSP00000505164.1:n.*46-4710T>C
ENST00000680701.1:n.821+2T>C
ENST00000680768.1:c.1715-4710T>C ENSP00000506359.1:n.1715-4710T>C
ENST00000680768.2:c.1743+2T>C ENSP00000506359.2:n.1743+2T>C
ENST00000680961.1:c.*978-4710T>C ENSP00000506386.1:n.*978-4710T>C
ENST00000681026.1:c.677-4710T>C ENSP00000506689.1:n.677-4710T>C
ENST00000681989.1:n.1813-4710T>C
ENST00000682207.1:n.1135-4710T>C
ENST00000682238.1:c.3305-4710T>C ENSP00000508124.1:n.3305-4710T>C
ENST00000682322.1:c.1737+2T>C ENSP00000507690.1:n.1737+2T>C
ENST00000682600.1:c.1803+2T>C ENSP00000507640.1:n.1803+2T>C
ENST00000682746.1:n.405-4710T>C
ENST00000682769.1:n.1607-4710T>C
ENST00000683509.1:n.2493-4710T>C
ENST00000683675.1:n.2145+2T>C
ENST00000683709.1:n.2525+2T>C
ENST00000684072.1:n.1275+2T>C
ENST00000684130.1:c.3627+2T>C ENSP00000508037.1:n.3627+2T>C
ENST00000684350.1:n.2830-4710T>C
XM_006724468.2:c.11015-4710T>C XP_006724531.1:n.11015-4710T>C
XM_006724469.2:c.10991-4710T>C XP_006724532.1:n.10991-4710T>C
XM_006724469.3:c.10991-4710T>C XP_006724532.1:n.10991-4710T>C
XM_006724470.2:c.10976-4710T>C XP_006724533.1:n.10976-4710T>C
XM_006724470.3:c.10976-4710T>C XP_006724533.1:n.10976-4710T>C
XM_006724471.2:c.10910-4710T>C XP_006724534.1:n.10910-4710T>C
XM_006724472.2:c.10886-4710T>C XP_006724535.1:n.10886-4710T>C
XM_006724473.2:c.10877-4710T>C XP_006724536.1:n.10877-4710T>C
XM_006724474.2:c.10685-4710T>C XP_006724537.1:n.10685-4710T>C
XM_006724474.3:c.10685-4710T>C XP_006724537.1:n.10685-4710T>C
XM_006724475.2:c.10716+2T>C XP_006724538.1:n.10716+2T>C
XM_011545467.1:c.10892-4710T>C XP_011543769.1:n.10892-4710T>C
XM_017029328.1:c.11007+2T>C XP_016884817.1:n.11007+2T>C
XM_017029331.1:c.5189-4710T>C XP_016884820.1:n.5189-4710T>C