Canonical Allele Identifier: CA2695232436
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31773996_31774005del , CM000685.2:g.31773996_31774005del GRCh38
NC_000023.10:g.31792113_31792122del , CM000685.1:g.31792113_31792122del GRCh37
NC_000023.9:g.31702034_31702043del NCBI36
NG_012232.1:g.1570605_1570614del , LRG_199:g.1570605_1570614del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.2343_2352del ENSP00000350765.3:p.Met781IlefsTer8
ENST00000682238.1:c.117_126del ENSP00000508124.1:p.Met39IlefsTer8
ENST00000683117.1:n.1158_1167del
ENST00000683450.1:n.1080_1089del
ENST00000683851.1:n.1158_1167del
ENST00000683957.1:n.989_998del
ENST00000684130.1:c.117_126del ENSP00000508037.1:p.Met39IlefsTer8
ENST00000357033.9:c.7497_7506del MANE Select ENSP00000354923.3:p.Met2499IlefsTer8
ENST00000619831.5:c.3465_3474del ENSP00000479270.2:p.Met1155IlefsTer8
ENST00000620040.5:c.117_126del ENSP00000478150.2:p.Met39IlefsTer8
ENST00000680961.1:c.117_126del ENSP00000506386.1:p.Met39IlefsTer8
ENST00000681646.1:n.1158_1167del
ENST00000681839.1:c.486_495del ENSP00000505228.1:p.Met162IlefsTer8
ENST00000357033.8:c.7497_7506del ENSP00000354923.3:p.Met2499IlefsTer8
ENST00000358062.6:c.585_594del ENSP00000350765.2:p.Met195IlefsTer8
ENST00000359836.5:c.117_126del ENSP00000352894.1:p.Met39IlefsTer8
ENST00000378677.6:c.7485_7494del ENSP00000367948.2:p.Met2495IlefsTer8
ENST00000378707.7:c.117_126del ENSP00000367979.3:p.Met39IlefsTer8
ENST00000471779.1:c.254_263del ENSP00000417075.1:n.254_263del
ENST00000474231.5:c.117_126del ENSP00000417123.1:p.Met39IlefsTer8
ENST00000541735.5:c.117_126del ENSP00000444119.1:p.Met39IlefsTer8
ENST00000619831.4:c.7482_7491del ENSP00000479270.1:p.Met2494IlefsTer8
ENST00000620040.4:c.7494_7503del ENSP00000478150.1:p.Met2498IlefsTer8
NM_000109.3:c.7473_7482del NP_000100.2:p.Met2491IlefsTer8
NM_004006.2:c.7497_7506del , LRG_199t1:c.7497_7506del NP_003997.1:p.Met2499IlefsTer8
NM_004009.3:c.7485_7494del NP_004000.1:p.Met2495IlefsTer8
NM_004010.3:c.7128_7137del NP_004001.1:p.Met2376IlefsTer8
NM_004011.3:c.3474_3483del NP_004002.2:p.Met1158IlefsTer8
NM_004012.3:c.3465_3474del NP_004003.1:p.Met1155IlefsTer8
NM_004013.2:c.117_126del NP_004004.1:p.Met39IlefsTer8
NM_004020.3:c.117_126del NP_004011.2:p.Met39IlefsTer8
NM_004021.2:c.117_126del NP_004012.1:p.Met39IlefsTer8
NM_004022.2:c.117_126del NP_004013.1:p.Met39IlefsTer8
NM_004023.2:c.117_126del NP_004014.1:p.Met39IlefsTer8
XM_006724468.2:c.7497_7506del XP_006724531.1:p.Met2499IlefsTer8
XM_006724469.2:c.7473_7482del XP_006724532.1:p.Met2491IlefsTer8
XM_006724470.2:c.7497_7506del XP_006724533.1:p.Met2499IlefsTer8
XM_006724471.2:c.7497_7506del XP_006724534.1:p.Met2499IlefsTer8
XM_006724472.2:c.7368_7377del XP_006724535.1:p.Met2456IlefsTer8
XM_006724473.2:c.7359_7368del XP_006724536.1:p.Met2453IlefsTer8
XM_006724474.2:c.7497_7506del XP_006724537.1:p.Met2499IlefsTer8
XM_006724475.2:c.7497_7506del XP_006724538.1:p.Met2499IlefsTer8
XM_011545467.1:c.7374_7383del XP_011543769.1:p.Met2458IlefsTer8
XM_011545468.1:c.7497_7506del XP_011543770.1:p.Met2499IlefsTer8
XM_006724469.3:c.7473_7482del XP_006724532.1:p.Met2491IlefsTer8
XM_006724470.3:c.7497_7506del XP_006724533.1:p.Met2499IlefsTer8
XM_006724474.3:c.7497_7506del XP_006724537.1:p.Met2499IlefsTer8
XM_011545468.2:c.7497_7506del XP_011543770.1:p.Met2499IlefsTer8
XM_017029328.1:c.7497_7506del XP_016884817.1:p.Met2499IlefsTer8
XM_017029331.1:c.1671_1680del XP_016884820.1:p.Met557IlefsTer8
NM_000109.4:c.7473_7482del NP_000100.3:p.Met2491IlefsTer8
NM_004006.3:c.7497_7506del MANE Select NP_003997.2:p.Met2499IlefsTer8
NM_004011.4:c.3474_3483del NP_004002.3:p.Met1158IlefsTer8
NM_004012.4:c.3465_3474del NP_004003.2:p.Met1155IlefsTer8
NM_004021.3:c.117_126del NP_004012.2:p.Met39IlefsTer8
NM_004023.3:c.117_126del NP_004014.2:p.Met39IlefsTer8
NM_004013.3:c.117_126del NP_004004.2:p.Met39IlefsTer8
NM_004020.4:c.117_126del NP_004011.3:p.Met39IlefsTer8
NM_004022.3:c.117_126del NP_004013.2:p.Met39IlefsTer8