Canonical Allele Identifier: CA2695231986
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32464663_32464675del , CM000685.2:g.32464663_32464675del GRCh38
NC_000023.10:g.32482780_32482792del , CM000685.1:g.32482780_32482792del GRCh37
NC_000023.9:g.32392701_32392713del NCBI36
NG_012232.1:g.879936_879948del , LRG_199:g.879936_879948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682899.1:n.3395_3407del
ENST00000357033.9:c.3188_3200del MANE Select ENSP00000354923.3:p.Trp1063LeufsTer5
ENST00000357033.8:c.3188_3200del ENSP00000354923.3:p.Trp1063LeufsTer5
ENST00000378677.6:c.3176_3188del ENSP00000367948.2:p.Trp1059LeufsTer5
ENST00000420596.5:c.94-99475_94-99463del ENSP00000399897.1:n.94-99475_94-99463del
ENST00000448370.5:c.94-99964_94-99952del ENSP00000388559.1:n.94-99964_94-99952del
ENST00000488902.5:n.336-247611_336-247599del
ENST00000619831.4:c.3176_3188del ENSP00000479270.1:p.Trp1059LeufsTer5
ENST00000620040.4:c.3188_3200del ENSP00000478150.1:p.Trp1063LeufsTer5
NM_000109.3:c.3164_3176del NP_000100.2:p.Trp1055LeufsTer5
NM_004006.2:c.3188_3200del , LRG_199t1:c.3188_3200del NP_003997.1:p.Trp1063LeufsTer5
NM_004009.3:c.3176_3188del NP_004000.1:p.Trp1059LeufsTer5
NM_004010.3:c.2819_2831del NP_004001.1:p.Trp940LeufsTer5
XM_006724468.2:c.3188_3200del XP_006724531.1:p.Trp1063LeufsTer5
XM_006724469.2:c.3164_3176del XP_006724532.1:p.Trp1055LeufsTer5
XM_006724470.2:c.3188_3200del XP_006724533.1:p.Trp1063LeufsTer5
XM_006724471.2:c.3188_3200del XP_006724534.1:p.Trp1063LeufsTer5
XM_006724472.2:c.3059_3071del XP_006724535.1:p.Trp1020LeufsTer5
XM_006724473.2:c.3188_3200del XP_006724536.1:p.Trp1063LeufsTer5
XM_006724474.2:c.3188_3200del XP_006724537.1:p.Trp1063LeufsTer5
XM_006724475.2:c.3188_3200del XP_006724538.1:p.Trp1063LeufsTer5
XM_011545467.1:c.3188_3200del XP_011543769.1:p.Trp1063LeufsTer5
XM_011545468.1:c.3188_3200del XP_011543770.1:p.Trp1063LeufsTer5
XM_011545469.1:c.3188_3200del XP_011543771.1:p.Trp1063LeufsTer5
XM_006724469.3:c.3164_3176del XP_006724532.1:p.Trp1055LeufsTer5
XM_006724470.3:c.3188_3200del XP_006724533.1:p.Trp1063LeufsTer5
XM_006724474.3:c.3188_3200del XP_006724537.1:p.Trp1063LeufsTer5
XM_011545468.2:c.3188_3200del XP_011543770.1:p.Trp1063LeufsTer5
XM_017029328.1:c.3188_3200del XP_016884817.1:p.Trp1063LeufsTer5
XM_017029329.1:c.3188_3200del XP_016884818.1:p.Trp1063LeufsTer5
XM_017029330.2:c.3188_3200del XP_016884819.1:p.Trp1063LeufsTer5
NM_000109.4:c.3164_3176del NP_000100.3:p.Trp1055LeufsTer5
NM_004006.3:c.3188_3200del MANE Select NP_003997.2:p.Trp1063LeufsTer5