Canonical Allele Identifier: CA2695234113
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32365108del , CM000685.2:g.32365108del GRCh38
NC_000023.10:g.32383225del , CM000685.1:g.32383225del GRCh37
NC_000023.9:g.32293146del NCBI36
NG_012232.1:g.979502del , LRG_199:g.979502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357033.9:c.4937del MANE Select ENSP00000354923.3:p.Glu1646GlyfsTer11
ENST00000619831.5:c.905del ENSP00000479270.2:p.Glu302GlyfsTer11
ENST00000357033.8:c.4937del ENSP00000354923.3:p.Glu1646GlyfsTer11
ENST00000378677.6:c.4925del ENSP00000367948.2:p.Glu1642GlyfsTer11
ENST00000420596.5:c.185del ENSP00000399897.1:p.Glu62GlyfsTer11
ENST00000448370.5:c.94-398del ENSP00000388559.1:n.94-398del
ENST00000488902.5:n.336-148045del
ENST00000619831.4:c.4925del ENSP00000479270.1:p.Glu1642GlyfsTer11
ENST00000620040.4:c.4937del ENSP00000478150.1:p.Glu1646GlyfsTer11
NM_000109.3:c.4913del NP_000100.2:p.Glu1638GlyfsTer11
NM_004006.2:c.4937del , LRG_199t1:c.4937del NP_003997.1:p.Glu1646GlyfsTer11
NM_004009.3:c.4925del NP_004000.1:p.Glu1642GlyfsTer11
NM_004010.3:c.4568del NP_004001.1:p.Glu1523GlyfsTer11
NM_004011.3:c.914del NP_004002.2:p.Glu305GlyfsTer11
NM_004012.3:c.905del NP_004003.1:p.Glu302GlyfsTer11
XM_006724468.2:c.4937del XP_006724531.1:p.Glu1646GlyfsTer11
XM_006724469.2:c.4913del XP_006724532.1:p.Glu1638GlyfsTer11
XM_006724470.2:c.4937del XP_006724533.1:p.Glu1646GlyfsTer11
XM_006724471.2:c.4937del XP_006724534.1:p.Glu1646GlyfsTer11
XM_006724472.2:c.4808del XP_006724535.1:p.Glu1603GlyfsTer11
XM_006724473.2:c.4937del XP_006724536.1:p.Glu1646GlyfsTer11
XM_006724474.2:c.4937del XP_006724537.1:p.Glu1646GlyfsTer11
XM_006724475.2:c.4937del XP_006724538.1:p.Glu1646GlyfsTer11
XM_011545467.1:c.4937del XP_011543769.1:p.Glu1646GlyfsTer11
XM_011545468.1:c.4937del XP_011543770.1:p.Glu1646GlyfsTer11
XM_011545469.1:c.4937del XP_011543771.1:p.Glu1646GlyfsTer11
XM_006724469.3:c.4913del XP_006724532.1:p.Glu1638GlyfsTer11
XM_006724470.3:c.4937del XP_006724533.1:p.Glu1646GlyfsTer11
XM_006724474.3:c.4937del XP_006724537.1:p.Glu1646GlyfsTer11
XM_011545468.2:c.4937del XP_011543770.1:p.Glu1646GlyfsTer11
XM_017029328.1:c.4937del XP_016884817.1:p.Glu1646GlyfsTer11
XM_017029329.1:c.4937del XP_016884818.1:p.Glu1646GlyfsTer11
XM_017029330.2:c.4937del XP_016884819.1:p.Glu1646GlyfsTer11
NM_000109.4:c.4913del NP_000100.3:p.Glu1638GlyfsTer11
NM_004006.3:c.4937del MANE Select NP_003997.2:p.Glu1646GlyfsTer11
NM_004011.4:c.914del NP_004002.3:p.Glu305GlyfsTer11
NM_004012.4:c.905del NP_004003.2:p.Glu302GlyfsTer11