Canonical Allele Identifier: CA267070
Gene: DMD HGNC NCBI

Linked Data

dbSNP Id: rs398123992
MyVariant Identifiers: chrX:g.32364075_32364076dup (hg19) chrX:g.32364075_32364076dupTT (hg19) chrX:g.32364074_32364075insTT (hg19) chrX:g.32345958_32345959dupTT (hg38) chrX:g.32345957_32345958insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32345960_32345961dup , CM000685.2:g.32345960_32345961dup GRCh38
NC_000023.10:g.32364077_32364078dup , CM000685.1:g.32364077_32364078dup GRCh37
NC_000023.9:g.32273998_32273999dup NCBI36
NG_012232.1:g.998651_998652dup , LRG_199:g.998651_998652dup

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.416_417dup ENSP00000350765.3:p.His140AsnfsTer8
ENST00000357033.9:c.5570_5571dup MANE Select ENSP00000354923.3:p.His1858AsnfsTer8
ENST00000619831.5:c.1538_1539dup ENSP00000479270.2:p.His514AsnfsTer8
ENST00000357033.8:c.5570_5571dup ENSP00000354923.3:p.His1858AsnfsTer8
ENST00000378677.6:c.5558_5559dup ENSP00000367948.2:p.His1854AsnfsTer8
ENST00000488902.5:n.336-128896_336-128895dup
ENST00000493412.1:c.227_228dup ENSP00000417725.1:p.His77AsnfsTer8
ENST00000619831.4:c.5558_5559dup ENSP00000479270.1:p.His1854AsnfsTer8
ENST00000620040.4:c.5570_5571dup ENSP00000478150.1:p.His1858AsnfsTer8
NM_000109.3:c.5546_5547dup NP_000100.2:p.His1850AsnfsTer8
NM_004006.2:c.5570_5571dup , LRG_199t1:c.5570_5571dup NP_003997.1:p.His1858AsnfsTer8
NM_004009.3:c.5558_5559dup NP_004000.1:p.His1854AsnfsTer8
NM_004010.3:c.5201_5202dup NP_004001.1:p.His1735AsnfsTer8
NM_004011.3:c.1547_1548dup NP_004002.2:p.His517AsnfsTer8
NM_004012.3:c.1538_1539dup NP_004003.1:p.His514AsnfsTer8
XM_006724468.2:c.5570_5571dup XP_006724531.1:p.His1858AsnfsTer8
XM_006724469.2:c.5546_5547dup XP_006724532.1:p.His1850AsnfsTer8
XM_006724470.2:c.5570_5571dup XP_006724533.1:p.His1858AsnfsTer8
XM_006724471.2:c.5570_5571dup XP_006724534.1:p.His1858AsnfsTer8
XM_006724472.2:c.5441_5442dup XP_006724535.1:p.His1815AsnfsTer8
XM_006724473.2:c.5448+2447_5448+2448dup XP_006724536.1:n.5448+2447_5448+2448dup
XM_006724474.2:c.5570_5571dup XP_006724537.1:p.His1858AsnfsTer8
XM_006724475.2:c.5570_5571dup XP_006724538.1:p.His1858AsnfsTer8
XM_011545467.1:c.5447_5448dup XP_011543769.1:p.His1817AsnfsTer8
XM_011545468.1:c.5570_5571dup XP_011543770.1:p.His1858AsnfsTer8
XM_011545469.1:c.5570_5571dup XP_011543771.1:p.His1858AsnfsTer8
XM_006724469.3:c.5546_5547dup XP_006724532.1:p.His1850AsnfsTer8
XM_006724470.3:c.5570_5571dup XP_006724533.1:p.His1858AsnfsTer8
XM_006724474.3:c.5570_5571dup XP_006724537.1:p.His1858AsnfsTer8
XM_011545468.2:c.5570_5571dup XP_011543770.1:p.His1858AsnfsTer8
XM_017029328.1:c.5570_5571dup XP_016884817.1:p.His1858AsnfsTer8
XM_017029329.1:c.5570_5571dup XP_016884818.1:p.His1858AsnfsTer8
XM_017029330.2:c.5570_5571dup XP_016884819.1:p.His1858AsnfsTer8
NM_000109.4:c.5546_5547dup NP_000100.3:p.His1850AsnfsTer8
NM_004006.3:c.5570_5571dup MANE Select NP_003997.2:p.His1858AsnfsTer8
NM_004011.4:c.1547_1548dup NP_004002.3:p.His517AsnfsTer8
NM_004012.4:c.1538_1539dup NP_004003.2:p.His514AsnfsTer8
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