Canonical Allele Identifier: CA2695232747

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343267del , CM000685.2:g.32343267del	GRCh38
NC_000023.10:g.32361384del , CM000685.1:g.32361384del	GRCh37
NC_000023.9:g.32271305del	NCBI36
NG_012232.1:g.1001343del , LRG_199:g.1001343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.452del	ENSP00000350765.3:p.Arg151LysfsTer5
ENST00000357033.9:c.5606del MANE Select	ENSP00000354923.3:p.Arg1869LysfsTer5
ENST00000619831.5:c.1574del	ENSP00000479270.2:p.Arg525LysfsTer5
ENST00000357033.8:c.5606del	ENSP00000354923.3:p.Arg1869LysfsTer5
ENST00000378677.6:c.5594del	ENSP00000367948.2:p.Arg1865LysfsTer5
ENST00000488902.5:n.336-126204del
ENST00000493412.1:c.263del	ENSP00000417725.1:p.Arg88LysfsTer5
ENST00000619831.4:c.5594del	ENSP00000479270.1:p.Arg1865LysfsTer5
ENST00000620040.4:c.5606del	ENSP00000478150.1:p.Arg1869LysfsTer5
NM_000109.3:c.5582del	NP_000100.2:p.Arg1861LysfsTer5
NM_004006.2:c.5606del , LRG_199t1:c.5606del	NP_003997.1:p.Arg1869LysfsTer5
NM_004009.3:c.5594del	NP_004000.1:p.Arg1865LysfsTer5
NM_004010.3:c.5237del	NP_004001.1:p.Arg1746LysfsTer5
NM_004011.3:c.1583del	NP_004002.2:p.Arg528LysfsTer5
NM_004012.3:c.1574del	NP_004003.1:p.Arg525LysfsTer5
XM_006724468.2:c.5606del	XP_006724531.1:p.Arg1869LysfsTer5
XM_006724469.2:c.5582del	XP_006724532.1:p.Arg1861LysfsTer5
XM_006724470.2:c.5606del	XP_006724533.1:p.Arg1869LysfsTer5
XM_006724471.2:c.5606del	XP_006724534.1:p.Arg1869LysfsTer5
XM_006724472.2:c.5477del	XP_006724535.1:p.Arg1826LysfsTer5
XM_006724473.2:c.5468del	XP_006724536.1:p.Arg1823LysfsTer5
XM_006724474.2:c.5606del	XP_006724537.1:p.Arg1869LysfsTer5
XM_006724475.2:c.5606del	XP_006724538.1:p.Arg1869LysfsTer5
XM_011545467.1:c.5483del	XP_011543769.1:p.Arg1828LysfsTer5
XM_011545468.1:c.5606del	XP_011543770.1:p.Arg1869LysfsTer5
XM_011545469.1:c.5606del	XP_011543771.1:p.Arg1869LysfsTer5
XM_006724469.3:c.5582del	XP_006724532.1:p.Arg1861LysfsTer5
XM_006724470.3:c.5606del	XP_006724533.1:p.Arg1869LysfsTer5
XM_006724474.3:c.5606del	XP_006724537.1:p.Arg1869LysfsTer5
XM_011545468.2:c.5606del	XP_011543770.1:p.Arg1869LysfsTer5
XM_017029328.1:c.5606del	XP_016884817.1:p.Arg1869LysfsTer5
XM_017029329.1:c.5606del	XP_016884818.1:p.Arg1869LysfsTer5
XM_017029330.2:c.5606del	XP_016884819.1:p.Arg1869LysfsTer5
NM_000109.4:c.5582del	NP_000100.3:p.Arg1861LysfsTer5
NM_004006.3:c.5606del MANE Select	NP_003997.2:p.Arg1869LysfsTer5
NM_004011.4:c.1583del	NP_004002.3:p.Arg528LysfsTer5
NM_004012.4:c.1574del	NP_004003.2:p.Arg525LysfsTer5