Canonical Allele Identifier: CA16616691
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409931
ClinVar RCV Id: RCV000468912
dbSNP Id: rs1060502652
MyVariant Identifiers: chrX:g.33038308_33038309del (hg19) chrX:g.33020191_33020192del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.33020194_33020195del , CM000685.2:g.33020194_33020195del GRCh38
NC_000023.10:g.33038311_33038312del , CM000685.1:g.33038311_33038312del GRCh37
NC_000023.9:g.32948232_32948233del NCBI36
NG_012232.1:g.324418_324419del , LRG_199:g.324418_324419del

Transcript Alleles

HGVS Amino-acid change
ENST00000682071.1:c.-330_-329del ENSP00000508133.1:n.-330_-329del
ENST00000682307.1:n.224_225del
ENST00000682437.1:n.224_225del
ENST00000682439.1:n.224_225del
ENST00000682584.1:n.224_225del
ENST00000682870.1:n.225_226del
ENST00000682899.1:n.247_248del
ENST00000682924.1:c.40_41del ENSP00000508187.1:p.Glu14ArgfsTer17
ENST00000683309.1:n.224_225del
ENST00000683658.1:n.385_386del
ENST00000683985.1:n.247_248del
ENST00000684056.1:n.224_225del
ENST00000684165.1:n.247_248del
ENST00000684237.1:c.40_41del ENSP00000507277.1:p.Glu14ArgfsTer17
ENST00000684292.1:n.247_248del
ENST00000684357.1:n.224_225del
ENST00000684660.1:n.225_226del
ENST00000288447.9:c.16_17del ENSP00000288447.4:p.Glu6ArgfsTer17
ENST00000357033.9:c.40_41del MANE Select ENSP00000354923.3:p.Glu14ArgfsTer17
ENST00000288447.8:c.16_17del ENSP00000288447.4:p.Glu6ArgfsTer17
ENST00000357033.8:c.40_41del ENSP00000354923.3:p.Glu14ArgfsTer17
ENST00000378677.6:c.28_29del ENSP00000367948.2:p.Glu10ArgfsTer17
ENST00000420596.5:c.40_41del ENSP00000399897.1:p.Glu14ArgfsTer17
ENST00000448370.5:c.40_41del ENSP00000388559.1:p.Glu14ArgfsTer17
ENST00000472266.1:n.374_375del
ENST00000472681.1:n.85_86del
ENST00000488902.5:n.282_283del
ENST00000619831.4:c.28_29del ENSP00000479270.1:p.Glu10ArgfsTer17
ENST00000620040.4:c.40_41del ENSP00000478150.1:p.Glu14ArgfsTer17
NM_000109.3:c.16_17del NP_000100.2:p.Glu6ArgfsTer17
NM_004006.2:c.40_41del , LRG_199t1:c.40_41del NP_003997.1:p.Glu14ArgfsTer17
NM_004009.3:c.28_29del NP_004000.1:p.Glu10ArgfsTer17
NM_004010.3:c.-330_-329del NP_004001.1:n.-330_-329del
XM_006724468.2:c.40_41del XP_006724531.1:p.Glu14ArgfsTer17
XM_006724469.2:c.16_17del XP_006724532.1:p.Glu6ArgfsTer17
XM_006724470.2:c.40_41del XP_006724533.1:p.Glu14ArgfsTer17
XM_006724471.2:c.40_41del XP_006724534.1:p.Glu14ArgfsTer17
XM_006724472.2:c.40_41del XP_006724535.1:p.Glu14ArgfsTer17
XM_006724473.2:c.40_41del XP_006724536.1:p.Glu14ArgfsTer17
XM_006724474.2:c.40_41del XP_006724537.1:p.Glu14ArgfsTer17
XM_006724475.2:c.40_41del XP_006724538.1:p.Glu14ArgfsTer17
XM_011545467.1:c.40_41del XP_011543769.1:p.Glu14ArgfsTer17
XM_011545468.1:c.40_41del XP_011543770.1:p.Glu14ArgfsTer17
XM_011545469.1:c.40_41del XP_011543771.1:p.Glu14ArgfsTer17
XM_006724469.3:c.16_17del XP_006724532.1:p.Glu6ArgfsTer17
XM_006724470.3:c.40_41del XP_006724533.1:p.Glu14ArgfsTer17
XM_006724474.3:c.40_41del XP_006724537.1:p.Glu14ArgfsTer17
XM_011545468.2:c.40_41del XP_011543770.1:p.Glu14ArgfsTer17
XM_017029328.1:c.40_41del XP_016884817.1:p.Glu14ArgfsTer17
XM_017029329.1:c.40_41del XP_016884818.1:p.Glu14ArgfsTer17
XM_017029330.2:c.40_41del XP_016884819.1:p.Glu14ArgfsTer17
NM_000109.4:c.16_17del NP_000100.3:p.Glu6ArgfsTer17
NM_004006.3:c.40_41del MANE Select NP_003997.2:p.Glu14ArgfsTer17
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