Canonical Allele Identifier: CA16616651
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409894
ClinVar RCV Id: RCV000473878
dbSNP Id: rs1060502625

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31147348del , CM000685.2:g.31147348del GRCh38
NC_000023.10:g.31165465del , CM000685.1:g.31165465del GRCh37
NC_000023.9:g.31075386del NCBI36
NG_012232.1:g.2197263del , LRG_199:g.2197263del

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.5532del ENSP00000350765.3:p.Met1845CysfsTer18
ENST00000680162.2:c.1416del ENSP00000506634.2:p.Met473CysfsTer18
ENST00000680768.2:c.1482del ENSP00000506359.2:p.Met495CysfsTer18
ENST00000681989.1:n.1523del
ENST00000682207.1:n.845del
ENST00000682238.1:c.3015del ENSP00000508124.1:p.Met1006CysfsTer18
ENST00000682322.1:c.1416del ENSP00000507690.1:p.Met473CysfsTer18
ENST00000682600.1:c.1482del ENSP00000507640.1:p.Met495CysfsTer18
ENST00000682769.1:n.1317del
ENST00000683503.1:n.2540del
ENST00000683509.1:n.2203del
ENST00000683675.1:n.1824del
ENST00000683709.1:n.2204del
ENST00000683957.1:n.4178del
ENST00000683995.1:n.870del
ENST00000684072.1:n.954del
ENST00000684103.1:n.1133del
ENST00000684130.1:c.3306del ENSP00000508037.1:p.Met1103CysfsTer18
ENST00000684342.1:n.1769del
ENST00000684350.1:n.2540del
ENST00000343523.7:c.2580del ENSP00000340057.4:p.Met861CysfsTer18
ENST00000357033.9:c.10725del MANE Select ENSP00000354923.3:p.Met3576CysfsTer18
ENST00000619831.5:c.6693del ENSP00000479270.2:p.Met2232CysfsTer18
ENST00000620040.5:c.3306del ENSP00000478150.2:p.Met1103CysfsTer24
ENST00000679437.1:c.387del ENSP00000506629.1:p.Met130CysfsTer18
ENST00000679641.1:c.*397del ENSP00000506135.1:n.*397del
ENST00000679706.1:c.352del
ENST00000679850.1:n.5736del
ENST00000680162.1:c.1398del ENSP00000506634.1:p.Met467CysfsTer18
ENST00000680355.1:c.1191del ENSP00000506257.1:p.Met398CysfsTer18
ENST00000680557.1:c.604-13153del ENSP00000505164.1:n.604-13153del
ENST00000680701.1:n.500del
ENST00000680768.1:c.1425del ENSP00000506359.1:p.Met476CysfsTer18
ENST00000680961.1:c.*688del ENSP00000506386.1:n.*688del
ENST00000681026.1:c.387del ENSP00000506689.1:p.Met130CysfsTer18
ENST00000681153.1:c.1482del ENSP00000505124.1:p.Met495CysfsTer18
ENST00000343523.6:c.2538del ENSP00000340057.3:p.Met847CysfsTer18
ENST00000357033.8:c.10725del ENSP00000354923.3:p.Met3576CysfsTer18
ENST00000358062.6:c.3774del ENSP00000350765.2:p.Met1259CysfsTer18
ENST00000359836.5:c.3306del ENSP00000352894.1:p.Met1103CysfsTer18
ENST00000361471.8:c.1482del ENSP00000354464.4:p.Met495CysfsTer18
ENST00000378677.6:c.10713del ENSP00000367948.2:p.Met3572CysfsTer18
ENST00000378680.6:c.1191del ENSP00000367951.2:p.Met398CysfsTer18
ENST00000378702.8:c.1521del ENSP00000367974.4:p.Met508CysfsTer18
ENST00000378707.7:c.3345del ENSP00000367979.3:p.Met1116CysfsTer18
ENST00000378723.7:c.1521del ENSP00000367997.3:p.Met508CysfsTer18
ENST00000474231.5:c.3345del ENSP00000417123.1:p.Met1116CysfsTer18
ENST00000481143.2:n.114+22096del
ENST00000541735.5:c.3015del ENSP00000444119.1:p.Met1006CysfsTer18
ENST00000619831.4:c.10710del ENSP00000479270.1:p.Met3571CysfsTer18
ENST00000620040.4:c.10722del ENSP00000478150.1:p.Met3575CysfsTer18
NM_000109.3:c.10701del NP_000100.2:p.Met3568CysfsTer18
NM_004006.2:c.10725del , LRG_199t1:c.10725del NP_003997.1:p.Met3576CysfsTer18
NM_004009.3:c.10713del NP_004000.1:p.Met3572CysfsTer18
NM_004010.3:c.10356del NP_004001.1:p.Met3453CysfsTer18
NM_004011.3:c.6702del NP_004002.2:p.Met2235CysfsTer18
NM_004012.3:c.6693del NP_004003.1:p.Met2232CysfsTer18
NM_004013.2:c.3345del NP_004004.1:p.Met1116CysfsTer18
NM_004014.2:c.2538del NP_004005.1:p.Met847CysfsTer18
NM_004015.2:c.1521del NP_004006.1:p.Met508CysfsTer18
NM_004016.2:c.1521del NP_004007.1:p.Met508CysfsTer18
NM_004017.2:c.1482del NP_004008.1:p.Met495CysfsTer18
NM_004018.2:c.1482del NP_004009.1:p.Met495CysfsTer18
NM_004020.3:c.3015del NP_004011.2:p.Met1006CysfsTer18
NM_004021.2:c.3345del NP_004012.1:p.Met1116CysfsTer18
NM_004022.2:c.3306del NP_004013.1:p.Met1103CysfsTer18
NM_004023.2:c.3015del NP_004014.1:p.Met1006CysfsTer18
XM_006724468.2:c.10725del XP_006724531.1:p.Met3576CysfsTer18
XM_006724469.2:c.10701del XP_006724532.1:p.Met3568CysfsTer18
XM_006724470.2:c.10686del XP_006724533.1:p.Met3563CysfsTer18
XM_006724471.2:c.10620del XP_006724534.1:p.Met3541CysfsTer18
XM_006724472.2:c.10596del XP_006724535.1:p.Met3533CysfsTer18
XM_006724473.2:c.10587del XP_006724536.1:p.Met3530CysfsTer18
XM_006724474.2:c.10395del XP_006724537.1:p.Met3466CysfsTer18
XM_006724475.2:c.10395del XP_006724538.1:p.Met3466CysfsTer18
XM_011545467.1:c.10602del XP_011543769.1:p.Met3535CysfsTer18
XM_006724469.3:c.10701del XP_006724532.1:p.Met3568CysfsTer18
XM_006724470.3:c.10686del XP_006724533.1:p.Met3563CysfsTer18
XM_006724474.3:c.10395del XP_006724537.1:p.Met3466CysfsTer18
XM_017029328.1:c.10686del XP_016884817.1:p.Met3563CysfsTer18
XM_017029331.1:c.4899del XP_016884820.1:p.Met1634CysfsTer18
NM_000109.4:c.10701del NP_000100.3:p.Met3568CysfsTer18
NM_004006.3:c.10725del MANE Select NP_003997.2:p.Met3576CysfsTer18
NM_004011.4:c.6702del NP_004002.3:p.Met2235CysfsTer18
NM_004012.4:c.6693del NP_004003.2:p.Met2232CysfsTer18
NM_004015.3:c.1521del NP_004006.1:p.Met508CysfsTer18
NM_004016.3:c.1521del NP_004007.1:p.Met508CysfsTer18
NM_004017.3:c.1482del NP_004008.1:p.Met495CysfsTer18
NM_004018.3:c.1482del NP_004009.1:p.Met495CysfsTer18
NM_004021.3:c.3345del NP_004012.2:p.Met1116CysfsTer18
NM_004023.3:c.3015del NP_004014.2:p.Met1006CysfsTer18
NM_004013.3:c.3345del NP_004004.2:p.Met1116CysfsTer18
NM_004014.3:c.2538del NP_004005.2:p.Met847CysfsTer18
NM_004020.4:c.3015del NP_004011.3:p.Met1006CysfsTer18
NM_004022.3:c.3306del NP_004013.2:p.Met1103CysfsTer18