Canonical Allele Identifier: CA2579579366
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32287682_32287684del , CM000685.2:g.32287682_32287684del GRCh38
NC_000023.10:g.32305799_32305801del , CM000685.1:g.32305799_32305801del GRCh37
NC_000023.9:g.32215720_32215722del NCBI36
NG_012232.1:g.1056930_1056932del , LRG_199:g.1056930_1056932del

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.985_987del ENSP00000350765.3:p.Gln329del
ENST00000357033.9:c.6139_6141del MANE Select ENSP00000354923.3:p.Gln2047del
ENST00000619831.5:c.2107_2109del ENSP00000479270.2:p.Gln703del
ENST00000357033.8:c.6139_6141del ENSP00000354923.3:p.Gln2047del
ENST00000378677.6:c.6127_6129del ENSP00000367948.2:p.Gln2043del
ENST00000488902.5:n.336-70617_336-70615del
ENST00000619831.4:c.6127_6129del ENSP00000479270.1:p.Gln2043del
ENST00000620040.4:c.6139_6141del ENSP00000478150.1:p.Gln2047del
NM_000109.3:c.6115_6117del NP_000100.2:p.Gln2039del
NM_004006.2:c.6139_6141del , LRG_199t1:c.6139_6141del NP_003997.1:p.Gln2047del
NM_004009.3:c.6127_6129del NP_004000.1:p.Gln2043del
NM_004010.3:c.5770_5772del NP_004001.1:p.Gln1924del
NM_004011.3:c.2116_2118del NP_004002.2:p.Gln706del
NM_004012.3:c.2107_2109del NP_004003.1:p.Gln703del
XM_006724468.2:c.6139_6141del XP_006724531.1:p.Gln2047del
XM_006724469.2:c.6115_6117del XP_006724532.1:p.Gln2039del
XM_006724470.2:c.6139_6141del XP_006724533.1:p.Gln2047del
XM_006724471.2:c.6139_6141del XP_006724534.1:p.Gln2047del
XM_006724472.2:c.6010_6012del XP_006724535.1:p.Gln2004del
XM_006724473.2:c.6001_6003del XP_006724536.1:p.Gln2001del
XM_006724474.2:c.6139_6141del XP_006724537.1:p.Gln2047del
XM_006724475.2:c.6139_6141del XP_006724538.1:p.Gln2047del
XM_011545467.1:c.6016_6018del XP_011543769.1:p.Gln2006del
XM_011545468.1:c.6139_6141del XP_011543770.1:p.Gln2047del
XM_006724469.3:c.6115_6117del XP_006724532.1:p.Gln2039del
XM_006724470.3:c.6139_6141del XP_006724533.1:p.Gln2047del
XM_006724474.3:c.6139_6141del XP_006724537.1:p.Gln2047del
XM_011545468.2:c.6139_6141del XP_011543770.1:p.Gln2047del
XM_017029328.1:c.6139_6141del XP_016884817.1:p.Gln2047del
XM_017029329.1:c.6139_6141del XP_016884818.1:p.Gln2047del
XM_017029330.2:c.6139_6141del XP_016884819.1:p.Gln2047del
XM_017029331.1:c.313_315del XP_016884820.1:p.Gln105del
NM_000109.4:c.6115_6117del NP_000100.3:p.Gln2039del
NM_004006.3:c.6139_6141del MANE Select NP_003997.2:p.Gln2047del
NM_004011.4:c.2116_2118del NP_004002.3:p.Gln706del
NM_004012.4:c.2107_2109del NP_004003.2:p.Gln703del