Canonical Allele Identifier: CA16616495
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409888
ClinVar RCV Id: RCV000470659
dbSNP Id: rs1060502620

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31932182del , CM000685.2:g.31932182del GRCh38
NC_000023.10:g.31950299del , CM000685.1:g.31950299del GRCh37
NC_000023.9:g.31860220del NCBI36
NG_012232.1:g.1412430del , LRG_199:g.1412430del

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.1508del ENSP00000350765.3:p.Asn503MetfsTer26
ENST00000682135.1:n.323del
ENST00000682238.1:c.-719del ENSP00000508124.1:n.-719del
ENST00000683117.1:n.323del
ENST00000683450.1:n.323del
ENST00000683851.1:n.323del
ENST00000683957.1:n.154del
ENST00000684130.1:c.-719del ENSP00000508037.1:n.-719del
ENST00000357033.9:c.6662del MANE Select ENSP00000354923.3:p.Asn2221MetfsTer26
ENST00000619831.5:c.2630del ENSP00000479270.2:p.Asn877MetfsTer26
ENST00000620040.5:c.-719del ENSP00000478150.2:n.-719del
ENST00000680961.1:c.-719del ENSP00000506386.1:n.-719del
ENST00000681646.1:n.323del
ENST00000357033.8:c.6662del ENSP00000354923.3:p.Asn2221MetfsTer26
ENST00000359836.5:c.-719del ENSP00000352894.1:n.-719del
ENST00000378677.6:c.6650del ENSP00000367948.2:p.Asn2217MetfsTer26
ENST00000378707.7:c.-719del ENSP00000367979.3:n.-719del
ENST00000474231.5:c.-719del ENSP00000417123.1:n.-719del
ENST00000488902.5:n.707del
ENST00000541735.5:c.-719del ENSP00000444119.1:n.-719del
ENST00000619831.4:c.6647del ENSP00000479270.1:p.Asn2216MetfsTer26
ENST00000620040.4:c.6659del ENSP00000478150.1:p.Asn2220MetfsTer26
NM_000109.3:c.6638del NP_000100.2:p.Asn2213MetfsTer26
NM_004006.2:c.6662del , LRG_199t1:c.6662del NP_003997.1:p.Asn2221MetfsTer26
NM_004009.3:c.6650del NP_004000.1:p.Asn2217MetfsTer26
NM_004010.3:c.6293del NP_004001.1:p.Asn2098MetfsTer26
NM_004011.3:c.2639del NP_004002.2:p.Asn880MetfsTer26
NM_004012.3:c.2630del NP_004003.1:p.Asn877MetfsTer26
NM_004013.2:c.-719del NP_004004.1:n.-719del
NM_004020.3:c.-719del NP_004011.2:n.-719del
NM_004021.2:c.-719del NP_004012.1:n.-719del
NM_004022.2:c.-719del NP_004013.1:n.-719del
NM_004023.2:c.-719del NP_004014.1:n.-719del
XM_006724468.2:c.6662del XP_006724531.1:p.Asn2221MetfsTer26
XM_006724469.2:c.6638del XP_006724532.1:p.Asn2213MetfsTer26
XM_006724470.2:c.6662del XP_006724533.1:p.Asn2221MetfsTer26
XM_006724471.2:c.6662del XP_006724534.1:p.Asn2221MetfsTer26
XM_006724472.2:c.6533del XP_006724535.1:p.Asn2178MetfsTer26
XM_006724473.2:c.6524del XP_006724536.1:p.Asn2175MetfsTer26
XM_006724474.2:c.6662del XP_006724537.1:p.Asn2221MetfsTer26
XM_006724475.2:c.6662del XP_006724538.1:p.Asn2221MetfsTer26
XM_011545467.1:c.6539del XP_011543769.1:p.Asn2180MetfsTer26
XM_011545468.1:c.6662del XP_011543770.1:p.Asn2221MetfsTer26
XM_006724469.3:c.6638del XP_006724532.1:p.Asn2213MetfsTer26
XM_006724470.3:c.6662del XP_006724533.1:p.Asn2221MetfsTer26
XM_006724474.3:c.6662del XP_006724537.1:p.Asn2221MetfsTer26
XM_011545468.2:c.6662del XP_011543770.1:p.Asn2221MetfsTer26
XM_017029328.1:c.6662del XP_016884817.1:p.Asn2221MetfsTer26
XM_017029331.1:c.836del XP_016884820.1:p.Asn279MetfsTer26
NM_000109.4:c.6638del NP_000100.3:p.Asn2213MetfsTer26
NM_004006.3:c.6662del MANE Select NP_003997.2:p.Asn2221MetfsTer26
NM_004011.4:c.2639del NP_004002.3:p.Asn880MetfsTer26
NM_004012.4:c.2630del NP_004003.2:p.Asn877MetfsTer26
NM_004021.3:c.-719del NP_004012.2:n.-719del
NM_004023.3:c.-719del NP_004014.2:n.-719del
NM_004013.3:c.-719del NP_004004.2:n.-719del
NM_004020.4:c.-719del NP_004011.3:n.-719del
NM_004022.3:c.-719del NP_004013.2:n.-719del