Canonical Allele Identifier: CA2695234105

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365044_32365045dup , CM000685.2:g.32365044_32365045dup	GRCh38
NC_000023.10:g.32383161_32383162dup , CM000685.1:g.32383161_32383162dup	GRCh37
NC_000023.9:g.32293082_32293083dup	NCBI36
NG_012232.1:g.979565_979566dup , LRG_199:g.979565_979566dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.5000_5001dup MANE Select	ENSP00000354923.3:p.Glu1668GlnfsTer5
ENST00000619831.5:c.968_969dup	ENSP00000479270.2:p.Glu324GlnfsTer5
ENST00000357033.8:c.5000_5001dup	ENSP00000354923.3:p.Glu1668GlnfsTer5
ENST00000378677.6:c.4988_4989dup	ENSP00000367948.2:p.Glu1664GlnfsTer5
ENST00000420596.5:c.248_249dup	ENSP00000399897.1:p.Glu84GlnfsTer5
ENST00000448370.5:c.94-335_94-334dup	ENSP00000388559.1:n.94-335_94-334dup
ENST00000488902.5:n.336-147982_336-147981dup
ENST00000619831.4:c.4988_4989dup	ENSP00000479270.1:p.Glu1664GlnfsTer5
ENST00000620040.4:c.5000_5001dup	ENSP00000478150.1:p.Glu1668GlnfsTer5
NM_000109.3:c.4976_4977dup	NP_000100.2:p.Glu1660GlnfsTer5
NM_004006.2:c.5000_5001dup , LRG_199t1:c.5000_5001dup	NP_003997.1:p.Glu1668GlnfsTer5
NM_004009.3:c.4988_4989dup	NP_004000.1:p.Glu1664GlnfsTer5
NM_004010.3:c.4631_4632dup	NP_004001.1:p.Glu1545GlnfsTer5
NM_004011.3:c.977_978dup	NP_004002.2:p.Glu327GlnfsTer5
NM_004012.3:c.968_969dup	NP_004003.1:p.Glu324GlnfsTer5
XM_006724468.2:c.5000_5001dup	XP_006724531.1:p.Glu1668GlnfsTer5
XM_006724469.2:c.4976_4977dup	XP_006724532.1:p.Glu1660GlnfsTer5
XM_006724470.2:c.5000_5001dup	XP_006724533.1:p.Glu1668GlnfsTer5
XM_006724471.2:c.5000_5001dup	XP_006724534.1:p.Glu1668GlnfsTer5
XM_006724472.2:c.4871_4872dup	XP_006724535.1:p.Glu1625GlnfsTer5
XM_006724473.2:c.5000_5001dup	XP_006724536.1:p.Glu1668GlnfsTer5
XM_006724474.2:c.5000_5001dup	XP_006724537.1:p.Glu1668GlnfsTer5
XM_006724475.2:c.5000_5001dup	XP_006724538.1:p.Glu1668GlnfsTer5
XM_011545467.1:c.5000_5001dup	XP_011543769.1:p.Glu1668GlnfsTer5
XM_011545468.1:c.5000_5001dup	XP_011543770.1:p.Glu1668GlnfsTer5
XM_011545469.1:c.5000_5001dup	XP_011543771.1:p.Glu1668GlnfsTer5
XM_006724469.3:c.4976_4977dup	XP_006724532.1:p.Glu1660GlnfsTer5
XM_006724470.3:c.5000_5001dup	XP_006724533.1:p.Glu1668GlnfsTer5
XM_006724474.3:c.5000_5001dup	XP_006724537.1:p.Glu1668GlnfsTer5
XM_011545468.2:c.5000_5001dup	XP_011543770.1:p.Glu1668GlnfsTer5
XM_017029328.1:c.5000_5001dup	XP_016884817.1:p.Glu1668GlnfsTer5
XM_017029329.1:c.5000_5001dup	XP_016884818.1:p.Glu1668GlnfsTer5
XM_017029330.2:c.5000_5001dup	XP_016884819.1:p.Glu1668GlnfsTer5
NM_000109.4:c.4976_4977dup	NP_000100.3:p.Glu1660GlnfsTer5
NM_004006.3:c.5000_5001dup MANE Select	NP_003997.2:p.Glu1668GlnfsTer5
NM_004011.4:c.977_978dup	NP_004002.3:p.Glu327GlnfsTer5
NM_004012.4:c.968_969dup	NP_004003.2:p.Glu324GlnfsTer5