Canonical Allele Identifier: CA2695232748

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343284dup , CM000685.2:g.32343284dup	GRCh38
NC_000023.10:g.32361401dup , CM000685.1:g.32361401dup	GRCh37
NC_000023.9:g.32271322dup	NCBI36
NG_012232.1:g.1001328dup , LRG_199:g.1001328dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.437dup	ENSP00000350765.3:p.Leu146PhefsTer24
ENST00000357033.9:c.5591dup MANE Select	ENSP00000354923.3:p.Leu1864PhefsTer24
ENST00000619831.5:c.1559dup	ENSP00000479270.2:p.Leu520PhefsTer24
ENST00000357033.8:c.5591dup	ENSP00000354923.3:p.Leu1864PhefsTer24
ENST00000378677.6:c.5579dup	ENSP00000367948.2:p.Leu1860PhefsTer24
ENST00000488902.5:n.336-126219dup
ENST00000493412.1:c.248dup	ENSP00000417725.1:p.Leu83PhefsTer24
ENST00000619831.4:c.5579dup	ENSP00000479270.1:p.Leu1860PhefsTer24
ENST00000620040.4:c.5591dup	ENSP00000478150.1:p.Leu1864PhefsTer24
NM_000109.3:c.5567dup	NP_000100.2:p.Leu1856PhefsTer24
NM_004006.2:c.5591dup , LRG_199t1:c.5591dup	NP_003997.1:p.Leu1864PhefsTer24
NM_004009.3:c.5579dup	NP_004000.1:p.Leu1860PhefsTer24
NM_004010.3:c.5222dup	NP_004001.1:p.Leu1741PhefsTer24
NM_004011.3:c.1568dup	NP_004002.2:p.Leu523PhefsTer24
NM_004012.3:c.1559dup	NP_004003.1:p.Leu520PhefsTer24
XM_006724468.2:c.5591dup	XP_006724531.1:p.Leu1864PhefsTer24
XM_006724469.2:c.5567dup	XP_006724532.1:p.Leu1856PhefsTer24
XM_006724470.2:c.5591dup	XP_006724533.1:p.Leu1864PhefsTer24
XM_006724471.2:c.5591dup	XP_006724534.1:p.Leu1864PhefsTer24
XM_006724472.2:c.5462dup	XP_006724535.1:p.Leu1821PhefsTer24
XM_006724473.2:c.5453dup	XP_006724536.1:p.Leu1818PhefsTer24
XM_006724474.2:c.5591dup	XP_006724537.1:p.Leu1864PhefsTer24
XM_006724475.2:c.5591dup	XP_006724538.1:p.Leu1864PhefsTer24
XM_011545467.1:c.5468dup	XP_011543769.1:p.Leu1823PhefsTer24
XM_011545468.1:c.5591dup	XP_011543770.1:p.Leu1864PhefsTer24
XM_011545469.1:c.5591dup	XP_011543771.1:p.Leu1864PhefsTer24
XM_006724469.3:c.5567dup	XP_006724532.1:p.Leu1856PhefsTer24
XM_006724470.3:c.5591dup	XP_006724533.1:p.Leu1864PhefsTer24
XM_006724474.3:c.5591dup	XP_006724537.1:p.Leu1864PhefsTer24
XM_011545468.2:c.5591dup	XP_011543770.1:p.Leu1864PhefsTer24
XM_017029328.1:c.5591dup	XP_016884817.1:p.Leu1864PhefsTer24
XM_017029329.1:c.5591dup	XP_016884818.1:p.Leu1864PhefsTer24
XM_017029330.2:c.5591dup	XP_016884819.1:p.Leu1864PhefsTer24
NM_000109.4:c.5567dup	NP_000100.3:p.Leu1856PhefsTer24
NM_004006.3:c.5591dup MANE Select	NP_003997.2:p.Leu1864PhefsTer24
NM_004011.4:c.1568dup	NP_004002.3:p.Leu523PhefsTer24
NM_004012.4:c.1559dup	NP_004003.2:p.Leu520PhefsTer24