Canonical Allele Identifier: CA16616668
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409923
ClinVar RCV Id: RCV000457394
dbSNP Id: rs1060502646

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32342133_32342140del , CM000685.2:g.32342133_32342140del GRCh38
NC_000023.10:g.32360250_32360257del , CM000685.1:g.32360250_32360257del GRCh37
NC_000023.9:g.32270171_32270178del NCBI36
NG_012232.1:g.1002472_1002479del , LRG_199:g.1002472_1002479del

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.730_737del ENSP00000350765.3:p.Lys244SerfsTer15
ENST00000357033.9:c.5884_5891del MANE Select ENSP00000354923.3:p.Lys1962SerfsTer15
ENST00000619831.5:c.1852_1859del ENSP00000479270.2:p.Lys618SerfsTer15
ENST00000357033.8:c.5884_5891del ENSP00000354923.3:p.Lys1962SerfsTer15
ENST00000378677.6:c.5872_5879del ENSP00000367948.2:p.Lys1958SerfsTer15
ENST00000488902.5:n.336-125075_336-125068del
ENST00000619831.4:c.5872_5879del ENSP00000479270.1:p.Lys1958SerfsTer15
ENST00000620040.4:c.5884_5891del ENSP00000478150.1:p.Lys1962SerfsTer15
NM_000109.3:c.5860_5867del NP_000100.2:p.Lys1954SerfsTer15
NM_004006.2:c.5884_5891del , LRG_199t1:c.5884_5891del NP_003997.1:p.Lys1962SerfsTer15
NM_004009.3:c.5872_5879del NP_004000.1:p.Lys1958SerfsTer15
NM_004010.3:c.5515_5522del NP_004001.1:p.Lys1839SerfsTer15
NM_004011.3:c.1861_1868del NP_004002.2:p.Lys621SerfsTer15
NM_004012.3:c.1852_1859del NP_004003.1:p.Lys618SerfsTer15
XM_006724468.2:c.5884_5891del XP_006724531.1:p.Lys1962SerfsTer15
XM_006724469.2:c.5860_5867del XP_006724532.1:p.Lys1954SerfsTer15
XM_006724470.2:c.5884_5891del XP_006724533.1:p.Lys1962SerfsTer15
XM_006724471.2:c.5884_5891del XP_006724534.1:p.Lys1962SerfsTer15
XM_006724472.2:c.5755_5762del XP_006724535.1:p.Lys1919SerfsTer15
XM_006724473.2:c.5746_5753del XP_006724536.1:p.Lys1916SerfsTer15
XM_006724474.2:c.5884_5891del XP_006724537.1:p.Lys1962SerfsTer15
XM_006724475.2:c.5884_5891del XP_006724538.1:p.Lys1962SerfsTer15
XM_011545467.1:c.5761_5768del XP_011543769.1:p.Lys1921SerfsTer15
XM_011545468.1:c.5884_5891del XP_011543770.1:p.Lys1962SerfsTer15
XM_006724469.3:c.5860_5867del XP_006724532.1:p.Lys1954SerfsTer15
XM_006724470.3:c.5884_5891del XP_006724533.1:p.Lys1962SerfsTer15
XM_006724474.3:c.5884_5891del XP_006724537.1:p.Lys1962SerfsTer15
XM_011545468.2:c.5884_5891del XP_011543770.1:p.Lys1962SerfsTer15
XM_017029328.1:c.5884_5891del XP_016884817.1:p.Lys1962SerfsTer15
XM_017029329.1:c.5884_5891del XP_016884818.1:p.Lys1962SerfsTer15
XM_017029330.2:c.5884_5891del XP_016884819.1:p.Lys1962SerfsTer15
XM_017029331.1:c.58_65del XP_016884820.1:p.Lys20SerfsTer15
NM_000109.4:c.5860_5867del NP_000100.3:p.Lys1954SerfsTer15
NM_004006.3:c.5884_5891del MANE Select NP_003997.2:p.Lys1962SerfsTer15
NM_004011.4:c.1861_1868del NP_004002.3:p.Lys621SerfsTer15
NM_004012.4:c.1852_1859del NP_004003.2:p.Lys618SerfsTer15