Canonical Allele Identifier: CA16616482
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409893
ClinVar RCV Id: RCV000464817
dbSNP Id: rs1060502624

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31261003_31261006del , CM000685.2:g.31261003_31261006del GRCh38
NC_000023.10:g.31279120_31279123del , CM000685.1:g.31279120_31279123del GRCh37
NC_000023.9:g.31189041_31189044del NCBI36
NG_012232.1:g.2083607_2083610del , LRG_199:g.2083607_2083610del

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.4084_4087del ENSP00000350765.3:p.Thr1362LeufsTer8
ENST00000680162.2:c.34_37del ENSP00000506634.2:p.Thr12LeufsTer8
ENST00000680768.2:c.34_37del ENSP00000506359.2:p.Thr12LeufsTer8
ENST00000682238.1:c.1858_1861del ENSP00000508124.1:p.Thr620LeufsTer8
ENST00000682322.1:c.34_37del ENSP00000507690.1:p.Thr12LeufsTer8
ENST00000682600.1:c.34_37del ENSP00000507640.1:p.Thr12LeufsTer8
ENST00000683509.1:n.755_758del
ENST00000683675.1:n.337_340del
ENST00000683709.1:n.756_759del
ENST00000683957.1:n.2730_2733del
ENST00000684130.1:c.1858_1861del ENSP00000508037.1:p.Thr620LeufsTer8
ENST00000343523.7:c.1093_1096del ENSP00000340057.4:p.Thr365LeufsTer8
ENST00000357033.9:c.9238_9241del MANE Select ENSP00000354923.3:p.Thr3080LeufsTer8
ENST00000619831.5:c.5206_5209del ENSP00000479270.2:p.Thr1736LeufsTer8
ENST00000620040.5:c.1858_1861del ENSP00000478150.2:p.Thr620LeufsTer8
ENST00000679641.1:c.34_37del ENSP00000506135.1:p.Thr12LeufsTer8
ENST00000680216.1:c.14_17del
ENST00000680355.1:c.34_37del ENSP00000506257.1:p.Thr12LeufsTer8
ENST00000680557.1:c.34_37del ENSP00000505164.1:p.Thr12LeufsTer8
ENST00000680768.1:c.-24_-21del ENSP00000506359.1:n.-24_-21del
ENST00000680961.1:c.1858_1861del ENSP00000506386.1:p.Thr620LeufsTer8
ENST00000681153.1:c.34_37del ENSP00000505124.1:p.Thr12LeufsTer8
ENST00000681334.1:c.34_37del ENSP00000506066.1:p.Thr12LeufsTer8
ENST00000681646.1:n.2899_2902del
ENST00000681654.1:n.168_171del
ENST00000681870.1:c.34_37del ENSP00000506709.1:p.Thr12LeufsTer8
ENST00000343523.6:c.1051_1054del ENSP00000340057.3:p.Thr351LeufsTer8
ENST00000357033.8:c.9238_9241del ENSP00000354923.3:p.Thr3080LeufsTer8
ENST00000358062.6:c.2326_2329del ENSP00000350765.2:p.Thr776LeufsTer8
ENST00000359836.5:c.1858_1861del ENSP00000352894.1:p.Thr620LeufsTer8
ENST00000361471.8:c.34_37del ENSP00000354464.4:p.Thr12LeufsTer8
ENST00000378677.6:c.9226_9229del ENSP00000367948.2:p.Thr3076LeufsTer8
ENST00000378680.6:c.34_37del ENSP00000367951.2:p.Thr12LeufsTer8
ENST00000378702.8:c.34_37del ENSP00000367974.4:p.Thr12LeufsTer8
ENST00000378707.7:c.1858_1861del ENSP00000367979.3:p.Thr620LeufsTer8
ENST00000378723.7:c.34_37del ENSP00000367997.3:p.Thr12LeufsTer8
ENST00000469142.1:n.257_260del
ENST00000474231.5:c.1858_1861del ENSP00000417123.1:p.Thr620LeufsTer8
ENST00000541735.5:c.1858_1861del ENSP00000444119.1:p.Thr620LeufsTer8
ENST00000619831.4:c.9223_9226del ENSP00000479270.1:p.Thr3075LeufsTer8
ENST00000620040.4:c.9235_9238del ENSP00000478150.1:p.Thr3079LeufsTer8
NM_000109.3:c.9214_9217del NP_000100.2:p.Thr3072LeufsTer8
NM_004006.2:c.9238_9241del , LRG_199t1:c.9238_9241del NP_003997.1:p.Thr3080LeufsTer8
NM_004009.3:c.9226_9229del NP_004000.1:p.Thr3076LeufsTer8
NM_004010.3:c.8869_8872del NP_004001.1:p.Thr2957LeufsTer8
NM_004011.3:c.5215_5218del NP_004002.2:p.Thr1739LeufsTer8
NM_004012.3:c.5206_5209del NP_004003.1:p.Thr1736LeufsTer8
NM_004013.2:c.1858_1861del NP_004004.1:p.Thr620LeufsTer8
NM_004014.2:c.1051_1054del NP_004005.1:p.Thr351LeufsTer8
NM_004015.2:c.34_37del NP_004006.1:p.Thr12LeufsTer8
NM_004016.2:c.34_37del NP_004007.1:p.Thr12LeufsTer8
NM_004017.2:c.34_37del NP_004008.1:p.Thr12LeufsTer8
NM_004018.2:c.34_37del NP_004009.1:p.Thr12LeufsTer8
NM_004019.2:c.34_37del NP_004010.1:p.Thr12LeufsTer8
NM_004020.3:c.1858_1861del NP_004011.2:p.Thr620LeufsTer8
NM_004021.2:c.1858_1861del NP_004012.1:p.Thr620LeufsTer8
NM_004022.2:c.1858_1861del NP_004013.1:p.Thr620LeufsTer8
NM_004023.2:c.1858_1861del NP_004014.1:p.Thr620LeufsTer8
XM_006724468.2:c.9238_9241del XP_006724531.1:p.Thr3080LeufsTer8
XM_006724469.2:c.9214_9217del XP_006724532.1:p.Thr3072LeufsTer8
XM_006724470.2:c.9238_9241del XP_006724533.1:p.Thr3080LeufsTer8
XM_006724471.2:c.9238_9241del XP_006724534.1:p.Thr3080LeufsTer8
XM_006724472.2:c.9109_9112del XP_006724535.1:p.Thr3037LeufsTer8
XM_006724473.2:c.9100_9103del XP_006724536.1:p.Thr3034LeufsTer8
XM_006724474.2:c.9238_9241del XP_006724537.1:p.Thr3080LeufsTer8
XM_006724475.2:c.9238_9241del XP_006724538.1:p.Thr3080LeufsTer8
XM_011545467.1:c.9115_9118del XP_011543769.1:p.Thr3039LeufsTer8
XM_011545468.1:c.9238_9241del XP_011543770.1:p.Thr3080LeufsTer8
XM_006724469.3:c.9214_9217del XP_006724532.1:p.Thr3072LeufsTer8
XM_006724470.3:c.9238_9241del XP_006724533.1:p.Thr3080LeufsTer8
XM_006724474.3:c.9238_9241del XP_006724537.1:p.Thr3080LeufsTer8
XM_011545468.2:c.9238_9241del XP_011543770.1:p.Thr3080LeufsTer8
XM_017029328.1:c.9238_9241del XP_016884817.1:p.Thr3080LeufsTer8
XM_017029331.1:c.3412_3415del XP_016884820.1:p.Thr1138LeufsTer8
NM_000109.4:c.9214_9217del NP_000100.3:p.Thr3072LeufsTer8
NM_004006.3:c.9238_9241del MANE Select NP_003997.2:p.Thr3080LeufsTer8
NM_004011.4:c.5215_5218del NP_004002.3:p.Thr1739LeufsTer8
NM_004012.4:c.5206_5209del NP_004003.2:p.Thr1736LeufsTer8
NM_004015.3:c.34_37del NP_004006.1:p.Thr12LeufsTer8
NM_004016.3:c.34_37del NP_004007.1:p.Thr12LeufsTer8
NM_004017.3:c.34_37del NP_004008.1:p.Thr12LeufsTer8
NM_004018.3:c.34_37del NP_004009.1:p.Thr12LeufsTer8
NM_004019.3:c.34_37del NP_004010.1:p.Thr12LeufsTer8
NM_004021.3:c.1858_1861del NP_004012.2:p.Thr620LeufsTer8
NM_004023.3:c.1858_1861del NP_004014.2:p.Thr620LeufsTer8
NM_004013.3:c.1858_1861del NP_004004.2:p.Thr620LeufsTer8
NM_004014.3:c.1051_1054del NP_004005.2:p.Thr351LeufsTer8
NM_004020.4:c.1858_1861del NP_004011.3:p.Thr620LeufsTer8
NM_004022.3:c.1858_1861del NP_004013.2:p.Thr620LeufsTer8