Canonical Allele Identifier: CA2695232444
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31774061del , CM000685.2:g.31774061del GRCh38
NC_000023.10:g.31792178del , CM000685.1:g.31792178del GRCh37
NC_000023.9:g.31702099del NCBI36
NG_012232.1:g.1570549del , LRG_199:g.1570549del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.2287del ENSP00000350765.3:p.Glu763AsnfsTer13
ENST00000682238.1:c.61del ENSP00000508124.1:p.Glu21AsnfsTer13
ENST00000683117.1:n.1102del
ENST00000683450.1:n.1024del
ENST00000683851.1:n.1102del
ENST00000683957.1:n.933del
ENST00000684130.1:c.61del ENSP00000508037.1:p.Glu21AsnfsTer13
ENST00000357033.9:c.7441del MANE Select ENSP00000354923.3:p.Glu2481AsnfsTer13
ENST00000619831.5:c.3409del ENSP00000479270.2:p.Glu1137AsnfsTer13
ENST00000620040.5:c.61del ENSP00000478150.2:p.Glu21AsnfsTer13
ENST00000680961.1:c.61del ENSP00000506386.1:p.Glu21AsnfsTer13
ENST00000681646.1:n.1102del
ENST00000681839.1:c.430del ENSP00000505228.1:p.Glu144AsnfsTer13
ENST00000357033.8:c.7441del ENSP00000354923.3:p.Glu2481AsnfsTer13
ENST00000358062.6:c.529del ENSP00000350765.2:p.Glu177AsnfsTer13
ENST00000359836.5:c.61del ENSP00000352894.1:p.Glu21AsnfsTer13
ENST00000378677.6:c.7429del ENSP00000367948.2:p.Glu2477AsnfsTer13
ENST00000378707.7:c.61del ENSP00000367979.3:p.Glu21AsnfsTer13
ENST00000471779.1:c.198del ENSP00000417075.1:n.198del
ENST00000474231.5:c.61del ENSP00000417123.1:p.Glu21AsnfsTer13
ENST00000541735.5:c.61del ENSP00000444119.1:p.Glu21AsnfsTer13
ENST00000619831.4:c.7426del ENSP00000479270.1:p.Glu2476AsnfsTer13
ENST00000620040.4:c.7438del ENSP00000478150.1:p.Glu2480AsnfsTer13
NM_000109.3:c.7417del NP_000100.2:p.Glu2473AsnfsTer13
NM_004006.2:c.7441del , LRG_199t1:c.7441del NP_003997.1:p.Glu2481AsnfsTer13
NM_004009.3:c.7429del NP_004000.1:p.Glu2477AsnfsTer13
NM_004010.3:c.7072del NP_004001.1:p.Glu2358AsnfsTer13
NM_004011.3:c.3418del NP_004002.2:p.Glu1140AsnfsTer13
NM_004012.3:c.3409del NP_004003.1:p.Glu1137AsnfsTer13
NM_004013.2:c.61del NP_004004.1:p.Glu21AsnfsTer13
NM_004020.3:c.61del NP_004011.2:p.Glu21AsnfsTer13
NM_004021.2:c.61del NP_004012.1:p.Glu21AsnfsTer13
NM_004022.2:c.61del NP_004013.1:p.Glu21AsnfsTer13
NM_004023.2:c.61del NP_004014.1:p.Glu21AsnfsTer13
XM_006724468.2:c.7441del XP_006724531.1:p.Glu2481AsnfsTer13
XM_006724469.2:c.7417del XP_006724532.1:p.Glu2473AsnfsTer13
XM_006724470.2:c.7441del XP_006724533.1:p.Glu2481AsnfsTer13
XM_006724471.2:c.7441del XP_006724534.1:p.Glu2481AsnfsTer13
XM_006724472.2:c.7312del XP_006724535.1:p.Glu2438AsnfsTer13
XM_006724473.2:c.7303del XP_006724536.1:p.Glu2435AsnfsTer13
XM_006724474.2:c.7441del XP_006724537.1:p.Glu2481AsnfsTer13
XM_006724475.2:c.7441del XP_006724538.1:p.Glu2481AsnfsTer13
XM_011545467.1:c.7318del XP_011543769.1:p.Glu2440AsnfsTer13
XM_011545468.1:c.7441del XP_011543770.1:p.Glu2481AsnfsTer13
XM_006724469.3:c.7417del XP_006724532.1:p.Glu2473AsnfsTer13
XM_006724470.3:c.7441del XP_006724533.1:p.Glu2481AsnfsTer13
XM_006724474.3:c.7441del XP_006724537.1:p.Glu2481AsnfsTer13
XM_011545468.2:c.7441del XP_011543770.1:p.Glu2481AsnfsTer13
XM_017029328.1:c.7441del XP_016884817.1:p.Glu2481AsnfsTer13
XM_017029331.1:c.1615del XP_016884820.1:p.Glu539AsnfsTer13
NM_000109.4:c.7417del NP_000100.3:p.Glu2473AsnfsTer13
NM_004006.3:c.7441del MANE Select NP_003997.2:p.Glu2481AsnfsTer13
NM_004011.4:c.3418del NP_004002.3:p.Glu1140AsnfsTer13
NM_004012.4:c.3409del NP_004003.2:p.Glu1137AsnfsTer13
NM_004021.3:c.61del NP_004012.2:p.Glu21AsnfsTer13
NM_004023.3:c.61del NP_004014.2:p.Glu21AsnfsTer13
NM_004013.3:c.61del NP_004004.2:p.Glu21AsnfsTer13
NM_004020.4:c.61del NP_004011.3:p.Glu21AsnfsTer13
NM_004022.3:c.61del NP_004013.2:p.Glu21AsnfsTer13