Canonical Allele Identifier: CA16616664
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409926
ClinVar RCV Id: RCV000457661
dbSNP Id: rs1060502648

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31209627del , CM000685.2:g.31209627del GRCh38
NC_000023.10:g.31227744del , CM000685.1:g.31227744del GRCh37
NC_000023.9:g.31137665del NCBI36
NG_012232.1:g.2134983del , LRG_199:g.2134983del

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.4280del ENSP00000350765.3:p.Met1427ArgfsTer10
ENST00000680162.2:c.230del ENSP00000506634.2:p.Met77ArgfsTer10
ENST00000680768.2:c.230del ENSP00000506359.2:p.Met77ArgfsTer10
ENST00000681989.1:n.232del
ENST00000682238.1:c.2054del ENSP00000508124.1:p.Met685ArgfsTer10
ENST00000682322.1:c.230del ENSP00000507690.1:p.Met77ArgfsTer10
ENST00000682600.1:c.230del ENSP00000507640.1:p.Met77ArgfsTer10
ENST00000682769.1:n.232del
ENST00000683509.1:n.951del
ENST00000683675.1:n.533del
ENST00000683709.1:n.952del
ENST00000683957.1:n.2926del
ENST00000684130.1:c.2054del ENSP00000508037.1:p.Met685ArgfsTer10
ENST00000343523.7:c.1289del ENSP00000340057.4:p.Met430ArgfsTer10
ENST00000357033.9:c.9434del MANE Select ENSP00000354923.3:p.Met3145ArgfsTer10
ENST00000619831.5:c.5402del ENSP00000479270.2:p.Met1801ArgfsTer10
ENST00000620040.5:c.2054del ENSP00000478150.2:p.Met685ArgfsTer10
ENST00000679641.1:c.230del ENSP00000506135.1:p.Met77ArgfsTer10
ENST00000680162.1:c.107del ENSP00000506634.1:p.Met36ArgfsTer10
ENST00000680355.1:c.230del ENSP00000506257.1:p.Met77ArgfsTer10
ENST00000680557.1:c.230del ENSP00000505164.1:p.Met77ArgfsTer10
ENST00000680768.1:c.173del ENSP00000506359.1:p.Met58ArgfsTer10
ENST00000680961.1:c.2054del ENSP00000506386.1:p.Met685ArgfsTer10
ENST00000681153.1:c.230del ENSP00000505124.1:p.Met77ArgfsTer10
ENST00000681334.1:c.230del ENSP00000506066.1:p.Met77ArgfsTer10
ENST00000681654.1:n.364del
ENST00000343523.6:c.1247del ENSP00000340057.3:p.Met416ArgfsTer10
ENST00000357033.8:c.9434del ENSP00000354923.3:p.Met3145ArgfsTer10
ENST00000358062.6:c.2522del ENSP00000350765.2:p.Met841ArgfsTer10
ENST00000359836.5:c.2054del ENSP00000352894.1:p.Met685ArgfsTer10
ENST00000361471.8:c.230del ENSP00000354464.4:p.Met77ArgfsTer10
ENST00000378677.6:c.9422del ENSP00000367948.2:p.Met3141ArgfsTer10
ENST00000378680.6:c.230del ENSP00000367951.2:p.Met77ArgfsTer10
ENST00000378702.8:c.230del ENSP00000367974.4:p.Met77ArgfsTer10
ENST00000378707.7:c.2054del ENSP00000367979.3:p.Met685ArgfsTer10
ENST00000378723.7:c.230del ENSP00000367997.3:p.Met77ArgfsTer10
ENST00000469142.1:n.453del
ENST00000474231.5:c.2054del ENSP00000417123.1:p.Met685ArgfsTer10
ENST00000541735.5:c.2054del ENSP00000444119.1:p.Met685ArgfsTer10
ENST00000619831.4:c.9419del ENSP00000479270.1:p.Met3140ArgfsTer10
ENST00000620040.4:c.9431del ENSP00000478150.1:p.Met3144ArgfsTer10
NM_000109.3:c.9410del NP_000100.2:p.Met3137ArgfsTer10
NM_004006.2:c.9434del , LRG_199t1:c.9434del NP_003997.1:p.Met3145ArgfsTer10
NM_004009.3:c.9422del NP_004000.1:p.Met3141ArgfsTer10
NM_004010.3:c.9065del NP_004001.1:p.Met3022ArgfsTer10
NM_004011.3:c.5411del NP_004002.2:p.Met1804ArgfsTer10
NM_004012.3:c.5402del NP_004003.1:p.Met1801ArgfsTer10
NM_004013.2:c.2054del NP_004004.1:p.Met685ArgfsTer10
NM_004014.2:c.1247del NP_004005.1:p.Met416ArgfsTer10
NM_004015.2:c.230del NP_004006.1:p.Met77ArgfsTer10
NM_004016.2:c.230del NP_004007.1:p.Met77ArgfsTer10
NM_004017.2:c.230del NP_004008.1:p.Met77ArgfsTer10
NM_004018.2:c.230del NP_004009.1:p.Met77ArgfsTer10
NM_004019.2:c.230del NP_004010.1:p.Met77ArgfsTer10
NM_004020.3:c.2054del NP_004011.2:p.Met685ArgfsTer10
NM_004021.2:c.2054del NP_004012.1:p.Met685ArgfsTer10
NM_004022.2:c.2054del NP_004013.1:p.Met685ArgfsTer10
NM_004023.2:c.2054del NP_004014.1:p.Met685ArgfsTer10
XM_006724468.2:c.9434del XP_006724531.1:p.Met3145ArgfsTer10
XM_006724469.2:c.9410del XP_006724532.1:p.Met3137ArgfsTer10
XM_006724470.2:c.9434del XP_006724533.1:p.Met3145ArgfsTer10
XM_006724471.2:c.9434del XP_006724534.1:p.Met3145ArgfsTer10
XM_006724472.2:c.9305del XP_006724535.1:p.Met3102ArgfsTer10
XM_006724473.2:c.9296del XP_006724536.1:p.Met3099ArgfsTer10
XM_006724474.2:c.9434del XP_006724537.1:p.Met3145ArgfsTer10
XM_006724475.2:c.9434del XP_006724538.1:p.Met3145ArgfsTer10
XM_011545467.1:c.9311del XP_011543769.1:p.Met3104ArgfsTer10
XM_011545468.1:c.9434del XP_011543770.1:p.Met3145ArgfsTer10
XM_006724469.3:c.9410del XP_006724532.1:p.Met3137ArgfsTer10
XM_006724470.3:c.9434del XP_006724533.1:p.Met3145ArgfsTer10
XM_006724474.3:c.9434del XP_006724537.1:p.Met3145ArgfsTer10
XM_011545468.2:c.9434del XP_011543770.1:p.Met3145ArgfsTer10
XM_017029328.1:c.9434del XP_016884817.1:p.Met3145ArgfsTer10
XM_017029331.1:c.3608del XP_016884820.1:p.Met1203ArgfsTer10
NM_000109.4:c.9410del NP_000100.3:p.Met3137ArgfsTer10
NM_004006.3:c.9434del MANE Select NP_003997.2:p.Met3145ArgfsTer10
NM_004011.4:c.5411del NP_004002.3:p.Met1804ArgfsTer10
NM_004012.4:c.5402del NP_004003.2:p.Met1801ArgfsTer10
NM_004015.3:c.230del NP_004006.1:p.Met77ArgfsTer10
NM_004016.3:c.230del NP_004007.1:p.Met77ArgfsTer10
NM_004017.3:c.230del NP_004008.1:p.Met77ArgfsTer10
NM_004018.3:c.230del NP_004009.1:p.Met77ArgfsTer10
NM_004019.3:c.230del NP_004010.1:p.Met77ArgfsTer10
NM_004021.3:c.2054del NP_004012.2:p.Met685ArgfsTer10
NM_004023.3:c.2054del NP_004014.2:p.Met685ArgfsTer10
NM_004013.3:c.2054del NP_004004.2:p.Met685ArgfsTer10
NM_004014.3:c.1247del NP_004005.2:p.Met416ArgfsTer10
NM_004020.4:c.2054del NP_004011.3:p.Met685ArgfsTer10
NM_004022.3:c.2054del NP_004013.2:p.Met685ArgfsTer10