Canonical Allele Identifier: CA266926
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 94500
ClinVar RCV Id: RCV000489215 RCV001210732 RCV001826733
dbSNP Id: rs398123881
gnomAD v4: X-32518014-TTTTTC-T
MyVariant Identifiers: chrX:g.32536132_32536136del (hg19) chrX:g.32536132_32536136delTTTTC (hg19) chrX:g.32518015_32518019del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32518019_32518023del , CM000685.2:g.32518019_32518023del GRCh38
NC_000023.10:g.32536136_32536140del , CM000685.1:g.32536136_32536140del GRCh37
NC_000023.9:g.32446057_32446061del NCBI36
NG_012232.1:g.826591_826595del , LRG_199:g.826591_826595del

Transcript Alleles

HGVS Amino-acid change
ENST00000682899.1:n.2488_2492del
ENST00000683985.1:n.2488_2492del
ENST00000288447.9:c.2257_2261del ENSP00000288447.4:p.Glu753SerfsTer27
ENST00000357033.9:c.2281_2285del MANE Select ENSP00000354923.3:p.Glu761SerfsTer10
ENST00000288447.8:c.2257_2261del ENSP00000288447.4:p.Glu753SerfsTer27
ENST00000357033.8:c.2281_2285del ENSP00000354923.3:p.Glu761SerfsTer10
ENST00000378677.6:c.2269_2273del ENSP00000367948.2:p.Glu757SerfsTer10
ENST00000420596.5:c.94-152820_94-152816del ENSP00000399897.1:n.94-152820_94-152816de...
ENST00000448370.5:c.94-153309_94-153305del ENSP00000388559.1:n.94-153309_94-153305de...
ENST00000488902.5:n.336-300956_336-300952del
ENST00000619831.4:c.2269_2273del ENSP00000479270.1:p.Glu757SerfsTer10
ENST00000620040.4:c.2281_2285del ENSP00000478150.1:p.Glu761SerfsTer10
NM_000109.3:c.2257_2261del NP_000100.2:p.Glu753SerfsTer10
NM_004006.2:c.2281_2285del , LRG_199t1:c.2281_2285del NP_003997.1:p.Glu761SerfsTer10
NM_004009.3:c.2269_2273del NP_004000.1:p.Glu757SerfsTer10
NM_004010.3:c.1912_1916del NP_004001.1:p.Glu638SerfsTer10
XM_006724468.2:c.2281_2285del XP_006724531.1:p.Glu761SerfsTer10
XM_006724469.2:c.2257_2261del XP_006724532.1:p.Glu753SerfsTer10
XM_006724470.2:c.2281_2285del XP_006724533.1:p.Glu761SerfsTer10
XM_006724471.2:c.2281_2285del XP_006724534.1:p.Glu761SerfsTer10
XM_006724472.2:c.2152_2156del XP_006724535.1:p.Glu718SerfsTer10
XM_006724473.2:c.2281_2285del XP_006724536.1:p.Glu761SerfsTer10
XM_006724474.2:c.2281_2285del XP_006724537.1:p.Glu761SerfsTer10
XM_006724475.2:c.2281_2285del XP_006724538.1:p.Glu761SerfsTer10
XM_011545467.1:c.2281_2285del XP_011543769.1:p.Glu761SerfsTer10
XM_011545468.1:c.2281_2285del XP_011543770.1:p.Glu761SerfsTer10
XM_011545469.1:c.2281_2285del XP_011543771.1:p.Glu761SerfsTer10
XM_006724469.3:c.2257_2261del XP_006724532.1:p.Glu753SerfsTer10
XM_006724470.3:c.2281_2285del XP_006724533.1:p.Glu761SerfsTer10
XM_006724474.3:c.2281_2285del XP_006724537.1:p.Glu761SerfsTer10
XM_011545468.2:c.2281_2285del XP_011543770.1:p.Glu761SerfsTer10
XM_017029328.1:c.2281_2285del XP_016884817.1:p.Glu761SerfsTer10
XM_017029329.1:c.2281_2285del XP_016884818.1:p.Glu761SerfsTer10
XM_017029330.2:c.2281_2285del XP_016884819.1:p.Glu761SerfsTer10
NM_000109.4:c.2257_2261del NP_000100.3:p.Glu753SerfsTer10
NM_004006.3:c.2281_2285del MANE Select NP_003997.2:p.Glu761SerfsTer10
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