Canonical Allele Identifier: CA2695232468
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31774175dup , CM000685.2:g.31774175dup GRCh38
NC_000023.10:g.31792292dup , CM000685.1:g.31792292dup GRCh37
NC_000023.9:g.31702213dup NCBI36
NG_012232.1:g.1570435dup , LRG_199:g.1570435dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.2173dup ENSP00000350765.3:p.Thr725AsnfsTer10
ENST00000682238.1:c.-54dup ENSP00000508124.1:n.-54dup
ENST00000683117.1:n.988dup
ENST00000683450.1:n.910dup
ENST00000683851.1:n.988dup
ENST00000683957.1:n.819dup
ENST00000684130.1:c.-54dup ENSP00000508037.1:n.-54dup
ENST00000357033.9:c.7327dup MANE Select ENSP00000354923.3:p.Thr2443AsnfsTer10
ENST00000619831.5:c.3295dup ENSP00000479270.2:p.Thr1099AsnfsTer10
ENST00000620040.5:c.-54dup ENSP00000478150.2:n.-54dup
ENST00000680961.1:c.-54dup ENSP00000506386.1:n.-54dup
ENST00000681646.1:n.988dup
ENST00000681839.1:c.316dup ENSP00000505228.1:p.Thr106AsnfsTer10
ENST00000357033.8:c.7327dup ENSP00000354923.3:p.Thr2443AsnfsTer10
ENST00000358062.6:c.415dup ENSP00000350765.2:p.Thr139AsnfsTer10
ENST00000359836.5:c.-54dup ENSP00000352894.1:n.-54dup
ENST00000378677.6:c.7315dup ENSP00000367948.2:p.Thr2439AsnfsTer10
ENST00000378707.7:c.-54dup ENSP00000367979.3:n.-54dup
ENST00000471779.1:c.84dup ENSP00000417075.1:p.Leu29ThrfsTer?
ENST00000474231.5:c.-54dup ENSP00000417123.1:n.-54dup
ENST00000541735.5:c.-54dup ENSP00000444119.1:n.-54dup
ENST00000619831.4:c.7312dup ENSP00000479270.1:p.Thr2438AsnfsTer10
ENST00000620040.4:c.7324dup ENSP00000478150.1:p.Thr2442AsnfsTer10
NM_000109.3:c.7303dup NP_000100.2:p.Thr2435AsnfsTer10
NM_004006.2:c.7327dup , LRG_199t1:c.7327dup NP_003997.1:p.Thr2443AsnfsTer10
NM_004009.3:c.7315dup NP_004000.1:p.Thr2439AsnfsTer10
NM_004010.3:c.6958dup NP_004001.1:p.Thr2320AsnfsTer10
NM_004011.3:c.3304dup NP_004002.2:p.Thr1102AsnfsTer10
NM_004012.3:c.3295dup NP_004003.1:p.Thr1099AsnfsTer10
NM_004013.2:c.-54dup NP_004004.1:n.-54dup
NM_004020.3:c.-54dup NP_004011.2:n.-54dup
NM_004021.2:c.-54dup NP_004012.1:n.-54dup
NM_004022.2:c.-54dup NP_004013.1:n.-54dup
NM_004023.2:c.-54dup NP_004014.1:n.-54dup
XM_006724468.2:c.7327dup XP_006724531.1:p.Thr2443AsnfsTer10
XM_006724469.2:c.7303dup XP_006724532.1:p.Thr2435AsnfsTer10
XM_006724470.2:c.7327dup XP_006724533.1:p.Thr2443AsnfsTer10
XM_006724471.2:c.7327dup XP_006724534.1:p.Thr2443AsnfsTer10
XM_006724472.2:c.7198dup XP_006724535.1:p.Thr2400AsnfsTer10
XM_006724473.2:c.7189dup XP_006724536.1:p.Thr2397AsnfsTer10
XM_006724474.2:c.7327dup XP_006724537.1:p.Thr2443AsnfsTer10
XM_006724475.2:c.7327dup XP_006724538.1:p.Thr2443AsnfsTer10
XM_011545467.1:c.7204dup XP_011543769.1:p.Thr2402AsnfsTer10
XM_011545468.1:c.7327dup XP_011543770.1:p.Thr2443AsnfsTer10
XM_006724469.3:c.7303dup XP_006724532.1:p.Thr2435AsnfsTer10
XM_006724470.3:c.7327dup XP_006724533.1:p.Thr2443AsnfsTer10
XM_006724474.3:c.7327dup XP_006724537.1:p.Thr2443AsnfsTer10
XM_011545468.2:c.7327dup XP_011543770.1:p.Thr2443AsnfsTer10
XM_017029328.1:c.7327dup XP_016884817.1:p.Thr2443AsnfsTer10
XM_017029331.1:c.1501dup XP_016884820.1:p.Thr501AsnfsTer10
NM_000109.4:c.7303dup NP_000100.3:p.Thr2435AsnfsTer10
NM_004006.3:c.7327dup MANE Select NP_003997.2:p.Thr2443AsnfsTer10
NM_004011.4:c.3304dup NP_004002.3:p.Thr1102AsnfsTer10
NM_004012.4:c.3295dup NP_004003.2:p.Thr1099AsnfsTer10
NM_004021.3:c.-54dup NP_004012.2:n.-54dup
NM_004023.3:c.-54dup NP_004014.2:n.-54dup
NM_004013.3:c.-54dup NP_004004.2:n.-54dup
NM_004020.4:c.-54dup NP_004011.3:n.-54dup
NM_004022.3:c.-54dup NP_004013.2:n.-54dup