Canonical Allele Identifier: CA2422337915
Gene: DMD HGNC NCBI

Linked Data

dbSNP Id: rs2040822863
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31178699_31178700insCTTCTATTTCTTTCTTTTTATTTACATTA , CM000685.2:g.31178699_31178700insCTTCTATTTCTTTCTTTTTATTTACATTA GRCh38
NC_000023.10:g.31196816_31196817insCTTCTATTTCTTTCTTTTTATTTACATTA , CM000685.1:g.31196816_31196817insCTTCTATTTCTTTCTTTTTATTTACATTA GRCh37
NC_000023.9:g.31106737_31106738insCTTCTATTTCTTTCTTTTTATTTACATTA NCBI36
NG_012232.1:g.2165910_2165911insTAATGTAAATAAAAAGAAAGAAATAGAAG , LRG_199:g.2165910_2165911insTAATGTAAATAAAAAGAAAGAAATAGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.5038_5039insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000350765.3:p.Gln1680LeufsTer3
ENST00000475732.3:n.2539_2540insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000680162.2:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000506634.2:p.Gln330LeufsTer3
ENST00000680768.2:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000506359.2:p.Gln330LeufsTer3
ENST00000681989.1:n.990_991insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000682238.1:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000508124.1:p.Gln938LeufsTer3
ENST00000682322.1:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000507690.1:p.Gln330LeufsTer3
ENST00000682600.1:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000507640.1:p.Gln330LeufsTer3
ENST00000682769.1:n.823_824insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000683509.1:n.1709_1710insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000683675.1:n.1291_1292insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000683709.1:n.1710_1711insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000683957.1:n.3684_3685insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000684130.1:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000508037.1:p.Gln938LeufsTer3
ENST00000343523.7:c.2047_2048insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000340057.4:p.Gln683LeufsTer3
ENST00000357033.9:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG MANE Select ENSP00000354923.3:p.Gln3398LeufsTer3
ENST00000475732.2:n.558_559insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000619831.5:c.6160_6161insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000479270.2:p.Gln2054LeufsTer3
ENST00000620040.5:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000478150.2:p.Gln938LeufsTer3
ENST00000679641.1:c.*194_*195insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000506135.1:n.*194_*195insTAATGTAAATAAAAAGAAAGAAATAGAAG...
ENST00000679706.1:c.149_150insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000680162.1:c.865_866insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000506634.1:p.Gln289LeufsTer3
ENST00000680355.1:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000506257.1:p.Gln330LeufsTer3
ENST00000680557.1:c.603+25261_603+25262insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000505164.1:n.603+25261_603+25262insTAATGTAAATAAAAAGAAA...
ENST00000680768.1:c.931_932insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000506359.1:p.Gln311LeufsTer3
ENST00000680961.1:c.*194_*195insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000506386.1:n.*194_*195insTAATGTAAATAAAAAGAAAGAAATAGAAG...
ENST00000681153.1:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000505124.1:p.Gln330LeufsTer3
ENST00000681654.1:n.1122_1123insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000343523.6:c.2005_2006insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000340057.3:p.Gln669LeufsTer3
ENST00000357033.8:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000354923.3:p.Gln3398LeufsTer3
ENST00000358062.6:c.3280_3281insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000350765.2:p.Gln1094LeufsTer3
ENST00000359836.5:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000352894.1:p.Gln938LeufsTer3
ENST00000361471.8:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000354464.4:p.Gln330LeufsTer3
ENST00000378677.6:c.10180_10181insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000367948.2:p.Gln3394LeufsTer3
ENST00000378680.6:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000367951.2:p.Gln330LeufsTer3
ENST00000378702.8:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000367974.4:p.Gln330LeufsTer3
ENST00000378705.3:c.562_563insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000367977.3:p.Gln188LeufsTer3
ENST00000378707.7:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000367979.3:p.Gln938LeufsTer3
ENST00000378723.7:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000367997.3:p.Gln330LeufsTer3
ENST00000474231.5:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000417123.1:p.Gln938LeufsTer3
ENST00000475732.1:n.408_409insTAATGTAAATAAAAAGAAAGAAATAGAAG
ENST00000541735.5:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000444119.1:p.Gln938LeufsTer3
ENST00000619831.4:c.10177_10178insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000479270.1:p.Gln3393LeufsTer3
ENST00000620040.4:c.10189_10190insTAATGTAAATAAAAAGAAAGAAATAGAAG ENSP00000478150.1:p.Gln3397LeufsTer3
NM_000109.3:c.10168_10169insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_000100.2:p.Gln3390LeufsTer3
NM_004006.2:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG , LRG_199t1:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_003997.1:p.Gln3398LeufsTer3
NM_004009.3:c.10180_10181insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004000.1:p.Gln3394LeufsTer3
NM_004010.3:c.9823_9824insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004001.1:p.Gln3275LeufsTer3
NM_004011.3:c.6169_6170insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004002.2:p.Gln2057LeufsTer3
NM_004012.3:c.6160_6161insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004003.1:p.Gln2054LeufsTer3
NM_004013.2:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004004.1:p.Gln938LeufsTer3
NM_004014.2:c.2005_2006insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004005.1:p.Gln669LeufsTer3
NM_004015.2:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004006.1:p.Gln330LeufsTer3
NM_004016.2:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004007.1:p.Gln330LeufsTer3
NM_004017.2:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004008.1:p.Gln330LeufsTer3
NM_004018.2:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004009.1:p.Gln330LeufsTer3
NM_004019.2:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004010.1:p.Gln330LeufsTer3
NM_004020.3:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004011.2:p.Gln938LeufsTer3
NM_004021.2:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004012.1:p.Gln938LeufsTer3
NM_004022.2:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004013.1:p.Gln938LeufsTer3
NM_004023.2:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004014.1:p.Gln938LeufsTer3
XM_006724468.2:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724531.1:p.Gln3398LeufsTer3
XM_006724469.2:c.10168_10169insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724532.1:p.Gln3390LeufsTer3
XM_006724470.2:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724533.1:p.Gln3398LeufsTer3
XM_006724471.2:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724534.1:p.Gln3398LeufsTer3
XM_006724472.2:c.10063_10064insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724535.1:p.Gln3355LeufsTer3
XM_006724473.2:c.10054_10055insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724536.1:p.Gln3352LeufsTer3
XM_006724474.2:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724537.1:p.Gln3398LeufsTer3
XM_006724475.2:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724538.1:p.Gln3398LeufsTer3
XM_011545467.1:c.10069_10070insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_011543769.1:p.Gln3357LeufsTer3
XM_006724469.3:c.10168_10169insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724532.1:p.Gln3390LeufsTer3
XM_006724470.3:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724533.1:p.Gln3398LeufsTer3
XM_006724474.3:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_006724537.1:p.Gln3398LeufsTer3
XM_017029328.1:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_016884817.1:p.Gln3398LeufsTer3
XM_017029331.1:c.4366_4367insTAATGTAAATAAAAAGAAAGAAATAGAAG XP_016884820.1:p.Gln1456LeufsTer3
NM_000109.4:c.10168_10169insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_000100.3:p.Gln3390LeufsTer3
NM_004006.3:c.10192_10193insTAATGTAAATAAAAAGAAAGAAATAGAAG MANE Select NP_003997.2:p.Gln3398LeufsTer3
NM_004011.4:c.6169_6170insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004002.3:p.Gln2057LeufsTer3
NM_004012.4:c.6160_6161insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004003.2:p.Gln2054LeufsTer3
NM_004015.3:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004006.1:p.Gln330LeufsTer3
NM_004016.3:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004007.1:p.Gln330LeufsTer3
NM_004017.3:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004008.1:p.Gln330LeufsTer3
NM_004018.3:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004009.1:p.Gln330LeufsTer3
NM_004019.3:c.988_989insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004010.1:p.Gln330LeufsTer3
NM_004021.3:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004012.2:p.Gln938LeufsTer3
NM_004023.3:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004014.2:p.Gln938LeufsTer3
NM_004013.3:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004004.2:p.Gln938LeufsTer3
NM_004014.3:c.2005_2006insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004005.2:p.Gln669LeufsTer3
NM_004020.4:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004011.3:p.Gln938LeufsTer3
NM_004022.3:c.2812_2813insTAATGTAAATAAAAAGAAAGAAATAGAAG NP_004013.2:p.Gln938LeufsTer3
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