Canonical Allele Identifier: CA2695232745

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343260_32343267del , CM000685.2:g.32343260_32343267del	GRCh38
NC_000023.10:g.32361377_32361384del , CM000685.1:g.32361377_32361384del	GRCh37
NC_000023.9:g.32271298_32271305del	NCBI36
NG_012232.1:g.1001344_1001351del , LRG_199:g.1001344_1001351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.453_460del	ENSP00000350765.3:p.Arg151SerfsTer16
ENST00000357033.9:c.5607_5614del MANE Select	ENSP00000354923.3:p.Arg1869SerfsTer16
ENST00000619831.5:c.1575_1582del	ENSP00000479270.2:p.Arg525SerfsTer16
ENST00000357033.8:c.5607_5614del	ENSP00000354923.3:p.Arg1869SerfsTer16
ENST00000378677.6:c.5595_5602del	ENSP00000367948.2:p.Arg1865SerfsTer16
ENST00000488902.5:n.336-126203_336-126196del
ENST00000493412.1:c.264_271del	ENSP00000417725.1:p.Arg88SerfsTer16
ENST00000619831.4:c.5595_5602del	ENSP00000479270.1:p.Arg1865SerfsTer16
ENST00000620040.4:c.5607_5614del	ENSP00000478150.1:p.Arg1869SerfsTer16
NM_000109.3:c.5583_5590del	NP_000100.2:p.Arg1861SerfsTer16
NM_004006.2:c.5607_5614del , LRG_199t1:c.5607_5614del	NP_003997.1:p.Arg1869SerfsTer16
NM_004009.3:c.5595_5602del	NP_004000.1:p.Arg1865SerfsTer16
NM_004010.3:c.5238_5245del	NP_004001.1:p.Arg1746SerfsTer16
NM_004011.3:c.1584_1591del	NP_004002.2:p.Arg528SerfsTer16
NM_004012.3:c.1575_1582del	NP_004003.1:p.Arg525SerfsTer16
XM_006724468.2:c.5607_5614del	XP_006724531.1:p.Arg1869SerfsTer16
XM_006724469.2:c.5583_5590del	XP_006724532.1:p.Arg1861SerfsTer16
XM_006724470.2:c.5607_5614del	XP_006724533.1:p.Arg1869SerfsTer16
XM_006724471.2:c.5607_5614del	XP_006724534.1:p.Arg1869SerfsTer16
XM_006724472.2:c.5478_5485del	XP_006724535.1:p.Arg1826SerfsTer16
XM_006724473.2:c.5469_5476del	XP_006724536.1:p.Arg1823SerfsTer16
XM_006724474.2:c.5607_5614del	XP_006724537.1:p.Arg1869SerfsTer16
XM_006724475.2:c.5607_5614del	XP_006724538.1:p.Arg1869SerfsTer16
XM_011545467.1:c.5484_5491del	XP_011543769.1:p.Arg1828SerfsTer16
XM_011545468.1:c.5607_5614del	XP_011543770.1:p.Arg1869SerfsTer16
XM_011545469.1:c.5607_5614del	XP_011543771.1:p.Arg1869SerfsTer16
XM_006724469.3:c.5583_5590del	XP_006724532.1:p.Arg1861SerfsTer16
XM_006724470.3:c.5607_5614del	XP_006724533.1:p.Arg1869SerfsTer16
XM_006724474.3:c.5607_5614del	XP_006724537.1:p.Arg1869SerfsTer16
XM_011545468.2:c.5607_5614del	XP_011543770.1:p.Arg1869SerfsTer16
XM_017029328.1:c.5607_5614del	XP_016884817.1:p.Arg1869SerfsTer16
XM_017029329.1:c.5607_5614del	XP_016884818.1:p.Arg1869SerfsTer16
XM_017029330.2:c.5607_5614del	XP_016884819.1:p.Arg1869SerfsTer16
NM_000109.4:c.5583_5590del	NP_000100.3:p.Arg1861SerfsTer16
NM_004006.3:c.5607_5614del MANE Select	NP_003997.2:p.Arg1869SerfsTer16
NM_004011.4:c.1584_1591del	NP_004002.3:p.Arg528SerfsTer16
NM_004012.4:c.1575_1582del	NP_004003.2:p.Arg525SerfsTer16