Canonical Allele Identifier: CA2695232794
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32386451_32386463del , CM000685.2:g.32386451_32386463del GRCh38
NC_000023.10:g.32404568_32404580del , CM000685.1:g.32404568_32404580del GRCh37
NC_000023.9:g.32314489_32314501del NCBI36
NG_012232.1:g.958149_958161del , LRG_199:g.958149_958161del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357033.9:c.4523_4535del MANE Select ENSP00000354923.3:p.Leu1508Ter
ENST00000619831.5:c.491_503del ENSP00000479270.2:p.Leu164Ter
ENST00000357033.8:c.4523_4535del ENSP00000354923.3:p.Leu1508Ter
ENST00000378677.6:c.4511_4523del ENSP00000367948.2:p.Leu1504Ter
ENST00000420596.5:c.94-21262_94-21250del ENSP00000399897.1:n.94-21262_94-21250del
ENST00000448370.5:c.94-21751_94-21739del ENSP00000388559.1:n.94-21751_94-21739del
ENST00000488902.5:n.336-169398_336-169386del
ENST00000619831.4:c.4511_4523del ENSP00000479270.1:p.Leu1504Ter
ENST00000620040.4:c.4523_4535del ENSP00000478150.1:p.Leu1508Ter
NM_000109.3:c.4499_4511del NP_000100.2:p.Leu1500Ter
NM_004006.2:c.4523_4535del , LRG_199t1:c.4523_4535del NP_003997.1:p.Leu1508Ter
NM_004009.3:c.4511_4523del NP_004000.1:p.Leu1504Ter
NM_004010.3:c.4154_4166del NP_004001.1:p.Leu1385Ter
NM_004011.3:c.500_512del NP_004002.2:p.Leu167Ter
NM_004012.3:c.491_503del NP_004003.1:p.Leu164Ter
XM_006724468.2:c.4523_4535del XP_006724531.1:p.Leu1508Ter
XM_006724469.2:c.4499_4511del XP_006724532.1:p.Leu1500Ter
XM_006724470.2:c.4523_4535del XP_006724533.1:p.Leu1508Ter
XM_006724471.2:c.4523_4535del XP_006724534.1:p.Leu1508Ter
XM_006724472.2:c.4394_4406del XP_006724535.1:p.Leu1465Ter
XM_006724473.2:c.4523_4535del XP_006724536.1:p.Leu1508Ter
XM_006724474.2:c.4523_4535del XP_006724537.1:p.Leu1508Ter
XM_006724475.2:c.4523_4535del XP_006724538.1:p.Leu1508Ter
XM_011545467.1:c.4523_4535del XP_011543769.1:p.Leu1508Ter
XM_011545468.1:c.4523_4535del XP_011543770.1:p.Leu1508Ter
XM_011545469.1:c.4523_4535del XP_011543771.1:p.Leu1508Ter
XM_006724469.3:c.4499_4511del XP_006724532.1:p.Leu1500Ter
XM_006724470.3:c.4523_4535del XP_006724533.1:p.Leu1508Ter
XM_006724474.3:c.4523_4535del XP_006724537.1:p.Leu1508Ter
XM_011545468.2:c.4523_4535del XP_011543770.1:p.Leu1508Ter
XM_017029328.1:c.4523_4535del XP_016884817.1:p.Leu1508Ter
XM_017029329.1:c.4523_4535del XP_016884818.1:p.Leu1508Ter
XM_017029330.2:c.4523_4535del XP_016884819.1:p.Leu1508Ter
NM_000109.4:c.4499_4511del NP_000100.3:p.Leu1500Ter
NM_004006.3:c.4523_4535del MANE Select NP_003997.2:p.Leu1508Ter
NM_004011.4:c.500_512del NP_004002.3:p.Leu167Ter
NM_004012.4:c.491_503del NP_004003.2:p.Leu164Ter