Canonical Allele Identifier: CA2820291250
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31261016_31261017insTTGATATAGTAGGGCACTTTGTTTGGCGAGATGGCTCTCTC , CM000685.2:g.31261016_31261017insTTGATATAGTAGGGCACTTTGTTTGGCGAGATGGCTCTCTC GRCh38
NC_000023.10:g.31279133_31279134insTTGATATAGTAGGGCACTTTGTTTGGCGAGATGGCTCTCTC , CM000685.1:g.31279133_31279134insTTGATATAGTAGGGCACTTTGTTTGGCGAGATGGCTCTCTC GRCh37
NC_000023.9:g.31189054_31189055insTTGATATAGTAGGGCACTTTGTTTGGCGAGATGGCTCTCTC NCBI36
NG_012232.1:g.2083593_2083594insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA , LRG_199:g.2083593_2083594insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.4071-1_4071insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000350765.3:n.4071-1_4071insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000680162.2:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000506634.2:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000680768.2:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000506359.2:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000682238.1:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000508124.1:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000682322.1:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000507690.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000682600.1:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000507640.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000683509.1:n.742-1_742insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
ENST00000683675.1:n.324-1_324insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
ENST00000683709.1:n.743-1_743insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
ENST00000683957.1:n.2717-1_2717insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
ENST00000684130.1:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000508037.1:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000343523.7:c.1080-1_1080insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000340057.4:n.1080-1_1080insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000357033.9:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA MANE Select ENSP00000354923.3:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000619831.5:c.5193-1_5193insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000479270.2:n.5193-1_5193insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000620040.5:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000478150.2:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000679641.1:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000506135.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000680355.1:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000506257.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000680557.1:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000505164.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000680768.1:c.-37-1_-37insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000506359.1:n.-37-1_-37insGAGAGAGCCATCTCGCCAAACAAAGTGCC...
ENST00000680961.1:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000506386.1:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000681153.1:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000505124.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000681334.1:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000506066.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000681646.1:n.2886-1_2886insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
ENST00000681654.1:n.155-1_155insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
ENST00000681870.1:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000506709.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000343523.6:c.1038-1_1038insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000340057.3:n.1038-1_1038insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000357033.8:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000354923.3:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000358062.6:c.2313-1_2313insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000350765.2:n.2313-1_2313insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000359836.5:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000352894.1:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000361471.8:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000354464.4:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000378677.6:c.9213-1_9213insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000367948.2:n.9213-1_9213insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000378680.6:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000367951.2:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000378702.8:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000367974.4:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000378707.7:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000367979.3:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000378723.7:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000367997.3:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCT...
ENST00000469142.1:n.244-1_244insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
ENST00000474231.5:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000417123.1:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000541735.5:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000444119.1:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000619831.4:c.9210-1_9210insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000479270.1:n.9210-1_9210insGAGAGAGCCATCTCGCCAAACAAAGTG...
ENST00000620040.4:c.9222-1_9222insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA ENSP00000478150.1:n.9222-1_9222insGAGAGAGCCATCTCGCCAAACAAAGTG...
NM_000109.3:c.9201-1_9201insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_000100.2:n.9201-1_9201insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004006.2:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA , LRG_199t1:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_003997.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004009.3:c.9213-1_9213insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004000.1:n.9213-1_9213insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004010.3:c.8856-1_8856insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004001.1:n.8856-1_8856insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004011.3:c.5202-1_5202insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004002.2:n.5202-1_5202insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004012.3:c.5193-1_5193insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004003.1:n.5193-1_5193insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004013.2:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004004.1:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004014.2:c.1038-1_1038insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004005.1:n.1038-1_1038insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004015.2:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004006.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATA...
NM_004016.2:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004007.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATA...
NM_004017.2:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004008.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATA...
NM_004018.2:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004009.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATA...
NM_004019.2:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004010.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATA...
NM_004020.3:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004011.2:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004021.2:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004012.1:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004022.2:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004013.1:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004023.2:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004014.1:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
XM_006724468.2:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724531.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_006724469.2:c.9201-1_9201insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724532.1:n.9201-1_9201insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_006724470.2:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724533.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_006724471.2:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724534.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_006724472.2:c.9096-1_9096insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724535.1:n.9096-1_9096insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_006724473.2:c.9087-1_9087insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724536.1:n.9087-1_9087insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_006724474.2:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724537.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_006724475.2:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724538.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_011545467.1:c.9102-1_9102insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_011543769.1:n.9102-1_9102insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_011545468.1:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_011543770.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_006724469.3:c.9201-1_9201insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724532.1:n.9201-1_9201insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_006724470.3:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724533.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_006724474.3:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_006724537.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_011545468.2:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_011543770.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_017029328.1:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_016884817.1:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
XM_017029331.1:c.3399-1_3399insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA XP_016884820.1:n.3399-1_3399insGAGAGAGCCATCTCGCCAAACAAAGTGCCC...
NM_000109.4:c.9201-1_9201insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_000100.3:n.9201-1_9201insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004006.3:c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA MANE Select NP_003997.2:n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004011.4:c.5202-1_5202insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004002.3:n.5202-1_5202insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004012.4:c.5193-1_5193insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004003.2:n.5193-1_5193insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004015.3:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004006.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATA...
NM_004016.3:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004007.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATA...
NM_004017.3:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004008.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATA...
NM_004018.3:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004009.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATA...
NM_004019.3:c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004010.1:n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATA...
NM_004021.3:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004012.2:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004023.3:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004014.2:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004013.3:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004004.2:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004014.3:c.1038-1_1038insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004005.2:n.1038-1_1038insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004020.4:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004011.3:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...
NM_004022.3:c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA NP_004013.2:n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTAC...