Canonical Allele Identifier: CA267093
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 1365016
ClinVar RCV Id: RCV001907790
dbSNP Id: rs398124003
MyVariant Identifiers: chrX:g.32328299_32328302del (hg19) chrX:g.32328299_32328302delTGAG (hg19) chrX:g.32310182_32310185del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32310185_32310188del , CM000685.2:g.32310185_32310188del GRCh38
NC_000023.10:g.32328302_32328305del , CM000685.1:g.32328302_32328305del GRCh37
NC_000023.9:g.32238223_32238226del NCBI36
NG_012232.1:g.1034425_1034428del , LRG_199:g.1034425_1034428del

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.860_863del ENSP00000350765.3:p.Thr287MetfsTer7
ENST00000357033.9:c.6014_6017del MANE Select ENSP00000354923.3:p.Thr2005MetfsTer7
ENST00000619831.5:c.1982_1985del ENSP00000479270.2:p.Thr661MetfsTer7
ENST00000357033.8:c.6014_6017del ENSP00000354923.3:p.Thr2005MetfsTer7
ENST00000378677.6:c.6002_6005del ENSP00000367948.2:p.Thr2001MetfsTer7
ENST00000488902.5:n.336-93122_336-93119del
ENST00000619831.4:c.6002_6005del ENSP00000479270.1:p.Thr2001MetfsTer7
ENST00000620040.4:c.6014_6017del ENSP00000478150.1:p.Thr2005MetfsTer7
NM_000109.3:c.5990_5993del NP_000100.2:p.Thr1997MetfsTer7
NM_004006.2:c.6014_6017del , LRG_199t1:c.6014_6017del NP_003997.1:p.Thr2005MetfsTer7
NM_004009.3:c.6002_6005del NP_004000.1:p.Thr2001MetfsTer7
NM_004010.3:c.5645_5648del NP_004001.1:p.Thr1882MetfsTer7
NM_004011.3:c.1991_1994del NP_004002.2:p.Thr664MetfsTer7
NM_004012.3:c.1982_1985del NP_004003.1:p.Thr661MetfsTer7
XM_006724468.2:c.6014_6017del XP_006724531.1:p.Thr2005MetfsTer7
XM_006724469.2:c.5990_5993del XP_006724532.1:p.Thr1997MetfsTer7
XM_006724470.2:c.6014_6017del XP_006724533.1:p.Thr2005MetfsTer7
XM_006724471.2:c.6014_6017del XP_006724534.1:p.Thr2005MetfsTer7
XM_006724472.2:c.5885_5888del XP_006724535.1:p.Thr1962MetfsTer7
XM_006724473.2:c.5876_5879del XP_006724536.1:p.Thr1959MetfsTer7
XM_006724474.2:c.6014_6017del XP_006724537.1:p.Thr2005MetfsTer7
XM_006724475.2:c.6014_6017del XP_006724538.1:p.Thr2005MetfsTer7
XM_011545467.1:c.5891_5894del XP_011543769.1:p.Thr1964MetfsTer7
XM_011545468.1:c.6014_6017del XP_011543770.1:p.Thr2005MetfsTer7
XM_006724469.3:c.5990_5993del XP_006724532.1:p.Thr1997MetfsTer7
XM_006724470.3:c.6014_6017del XP_006724533.1:p.Thr2005MetfsTer7
XM_006724474.3:c.6014_6017del XP_006724537.1:p.Thr2005MetfsTer7
XM_011545468.2:c.6014_6017del XP_011543770.1:p.Thr2005MetfsTer7
XM_017029328.1:c.6014_6017del XP_016884817.1:p.Thr2005MetfsTer7
XM_017029329.1:c.6014_6017del XP_016884818.1:p.Thr2005MetfsTer7
XM_017029330.2:c.6014_6017del XP_016884819.1:p.Thr2005MetfsTer7
XM_017029331.1:c.188_191del XP_016884820.1:p.Thr63MetfsTer7
NM_000109.4:c.5990_5993del NP_000100.3:p.Thr1997MetfsTer7
NM_004006.3:c.6014_6017del MANE Select NP_003997.2:p.Thr2005MetfsTer7
NM_004011.4:c.1991_1994del NP_004002.3:p.Thr664MetfsTer7
NM_004012.4:c.1982_1985del NP_004003.2:p.Thr661MetfsTer7
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