Canonical Allele Identifier: CA2579579438
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32343153_32343154del , CM000685.2:g.32343153_32343154del GRCh38
NC_000023.10:g.32361270_32361271del , CM000685.1:g.32361270_32361271del GRCh37
NC_000023.9:g.32271191_32271192del NCBI36
NG_012232.1:g.1001459_1001460del , LRG_199:g.1001459_1001460del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.568_569del ENSP00000350765.3:p.Asp190Ter
ENST00000357033.9:c.5722_5723del MANE Select ENSP00000354923.3:p.Asp1908Ter
ENST00000619831.5:c.1690_1691del ENSP00000479270.2:p.Asp564Ter
ENST00000357033.8:c.5722_5723del ENSP00000354923.3:p.Asp1908Ter
ENST00000378677.6:c.5710_5711del ENSP00000367948.2:p.Asp1904Ter
ENST00000488902.5:n.336-126088_336-126087del
ENST00000493412.1:c.379_380del ENSP00000417725.1:p.Asp127Ter
ENST00000619831.4:c.5710_5711del ENSP00000479270.1:p.Asp1904Ter
ENST00000620040.4:c.5722_5723del ENSP00000478150.1:p.Asp1908Ter
NM_000109.3:c.5698_5699del NP_000100.2:p.Asp1900Ter
NM_004006.2:c.5722_5723del , LRG_199t1:c.5722_5723del NP_003997.1:p.Asp1908Ter
NM_004009.3:c.5710_5711del NP_004000.1:p.Asp1904Ter
NM_004010.3:c.5353_5354del NP_004001.1:p.Asp1785Ter
NM_004011.3:c.1699_1700del NP_004002.2:p.Asp567Ter
NM_004012.3:c.1690_1691del NP_004003.1:p.Asp564Ter
XM_006724468.2:c.5722_5723del XP_006724531.1:p.Asp1908Ter
XM_006724469.2:c.5698_5699del XP_006724532.1:p.Asp1900Ter
XM_006724470.2:c.5722_5723del XP_006724533.1:p.Asp1908Ter
XM_006724471.2:c.5722_5723del XP_006724534.1:p.Asp1908Ter
XM_006724472.2:c.5593_5594del XP_006724535.1:p.Asp1865Ter
XM_006724473.2:c.5584_5585del XP_006724536.1:p.Asp1862Ter
XM_006724474.2:c.5722_5723del XP_006724537.1:p.Asp1908Ter
XM_006724475.2:c.5722_5723del XP_006724538.1:p.Asp1908Ter
XM_011545467.1:c.5599_5600del XP_011543769.1:p.Asp1867Ter
XM_011545468.1:c.5722_5723del XP_011543770.1:p.Asp1908Ter
XM_011545469.1:c.5722_5723del XP_011543771.1:p.Asp1908Ter
XM_006724469.3:c.5698_5699del XP_006724532.1:p.Asp1900Ter
XM_006724470.3:c.5722_5723del XP_006724533.1:p.Asp1908Ter
XM_006724474.3:c.5722_5723del XP_006724537.1:p.Asp1908Ter
XM_011545468.2:c.5722_5723del XP_011543770.1:p.Asp1908Ter
XM_017029328.1:c.5722_5723del XP_016884817.1:p.Asp1908Ter
XM_017029329.1:c.5722_5723del XP_016884818.1:p.Asp1908Ter
XM_017029330.2:c.5722_5723del XP_016884819.1:p.Asp1908Ter
NM_000109.4:c.5698_5699del NP_000100.3:p.Asp1900Ter
NM_004006.3:c.5722_5723del MANE Select NP_003997.2:p.Asp1908Ter
NM_004011.4:c.1699_1700del NP_004002.3:p.Asp567Ter
NM_004012.4:c.1690_1691del NP_004003.2:p.Asp564Ter