Canonical Allele Identifier: CA16616493
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409940
ClinVar RCV Id: RCV000456686
dbSNP Id: rs1060502659

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31875217_31875218del , CM000685.2:g.31875217_31875218del GRCh38
NC_000023.10:g.31893334_31893335del , CM000685.1:g.31893334_31893335del GRCh37
NC_000023.9:g.31803255_31803256del NCBI36
NG_012232.1:g.1469392_1469393del , LRG_199:g.1469392_1469393del

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.1914_1915del ENSP00000350765.3:p.Gln638HisfsTer8
ENST00000682238.1:c.-313_-312del ENSP00000508124.1:n.-313_-312del
ENST00000683117.1:n.729_730del
ENST00000683450.1:n.651_652del
ENST00000683851.1:n.729_730del
ENST00000683957.1:n.560_561del
ENST00000684130.1:c.-313_-312del ENSP00000508037.1:n.-313_-312del
ENST00000357033.9:c.7068_7069del MANE Select ENSP00000354923.3:p.Gln2356HisfsTer8
ENST00000619831.5:c.3036_3037del ENSP00000479270.2:p.Gln1012HisfsTer8
ENST00000620040.5:c.-313_-312del ENSP00000478150.2:n.-313_-312del
ENST00000680961.1:c.-313_-312del ENSP00000506386.1:n.-313_-312del
ENST00000681646.1:n.729_730del
ENST00000357033.8:c.7068_7069del ENSP00000354923.3:p.Gln2356HisfsTer8
ENST00000358062.6:c.156_157del ENSP00000350765.2:p.Gln52HisfsTer8
ENST00000359836.5:c.-313_-312del ENSP00000352894.1:n.-313_-312del
ENST00000378677.6:c.7056_7057del ENSP00000367948.2:p.Gln2352HisfsTer8
ENST00000378707.7:c.-313_-312del ENSP00000367979.3:n.-313_-312del
ENST00000474231.5:c.-313_-312del ENSP00000417123.1:n.-313_-312del
ENST00000541735.5:c.-313_-312del ENSP00000444119.1:n.-313_-312del
ENST00000619831.4:c.7053_7054del ENSP00000479270.1:p.Gln2351HisfsTer8
ENST00000620040.4:c.7065_7066del ENSP00000478150.1:p.Gln2355HisfsTer8
NM_000109.3:c.7044_7045del NP_000100.2:p.Gln2348HisfsTer8
NM_004006.2:c.7068_7069del , LRG_199t1:c.7068_7069del NP_003997.1:p.Gln2356HisfsTer8
NM_004009.3:c.7056_7057del NP_004000.1:p.Gln2352HisfsTer8
NM_004010.3:c.6699_6700del NP_004001.1:p.Gln2233HisfsTer8
NM_004011.3:c.3045_3046del NP_004002.2:p.Gln1015HisfsTer8
NM_004012.3:c.3036_3037del NP_004003.1:p.Gln1012HisfsTer8
NM_004013.2:c.-313_-312del NP_004004.1:n.-313_-312del
NM_004020.3:c.-313_-312del NP_004011.2:n.-313_-312del
NM_004021.2:c.-313_-312del NP_004012.1:n.-313_-312del
NM_004022.2:c.-313_-312del NP_004013.1:n.-313_-312del
NM_004023.2:c.-313_-312del NP_004014.1:n.-313_-312del
XM_006724468.2:c.7068_7069del XP_006724531.1:p.Gln2356HisfsTer8
XM_006724469.2:c.7044_7045del XP_006724532.1:p.Gln2348HisfsTer8
XM_006724470.2:c.7068_7069del XP_006724533.1:p.Gln2356HisfsTer8
XM_006724471.2:c.7068_7069del XP_006724534.1:p.Gln2356HisfsTer8
XM_006724472.2:c.6939_6940del XP_006724535.1:p.Gln2313HisfsTer8
XM_006724473.2:c.6930_6931del XP_006724536.1:p.Gln2310HisfsTer8
XM_006724474.2:c.7068_7069del XP_006724537.1:p.Gln2356HisfsTer8
XM_006724475.2:c.7068_7069del XP_006724538.1:p.Gln2356HisfsTer8
XM_011545467.1:c.6945_6946del XP_011543769.1:p.Gln2315HisfsTer8
XM_011545468.1:c.7068_7069del XP_011543770.1:p.Gln2356HisfsTer8
XM_006724469.3:c.7044_7045del XP_006724532.1:p.Gln2348HisfsTer8
XM_006724470.3:c.7068_7069del XP_006724533.1:p.Gln2356HisfsTer8
XM_006724474.3:c.7068_7069del XP_006724537.1:p.Gln2356HisfsTer8
XM_011545468.2:c.7068_7069del XP_011543770.1:p.Gln2356HisfsTer8
XM_017029328.1:c.7068_7069del XP_016884817.1:p.Gln2356HisfsTer8
XM_017029331.1:c.1242_1243del XP_016884820.1:p.Gln414HisfsTer8
NM_000109.4:c.7044_7045del NP_000100.3:p.Gln2348HisfsTer8
NM_004006.3:c.7068_7069del MANE Select NP_003997.2:p.Gln2356HisfsTer8
NM_004011.4:c.3045_3046del NP_004002.3:p.Gln1015HisfsTer8
NM_004012.4:c.3036_3037del NP_004003.2:p.Gln1012HisfsTer8
NM_004021.3:c.-313_-312del NP_004012.2:n.-313_-312del
NM_004023.3:c.-313_-312del NP_004014.2:n.-313_-312del
NM_004013.3:c.-313_-312del NP_004004.2:n.-313_-312del
NM_004020.4:c.-313_-312del NP_004011.3:n.-313_-312del
NM_004022.3:c.-313_-312del NP_004013.2:n.-313_-312del