Canonical Allele Identifier: CA2573332566

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287686_32287689dup , CM000685.2:g.32287686_32287689dup	GRCh38
NC_000023.10:g.32305803_32305806dup , CM000685.1:g.32305803_32305806dup	GRCh37
NC_000023.9:g.32215724_32215727dup	NCBI36
NG_012232.1:g.1056921_1056924dup , LRG_199:g.1056921_1056924dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.976_979dup	ENSP00000350765.3:p.Leu327GlnfsTer10
ENST00000357033.9:c.6130_6133dup MANE Select	ENSP00000354923.3:p.Leu2045GlnfsTer10
ENST00000619831.5:c.2098_2101dup	ENSP00000479270.2:p.Leu701GlnfsTer10
ENST00000357033.8:c.6130_6133dup	ENSP00000354923.3:p.Leu2045GlnfsTer10
ENST00000378677.6:c.6118_6121dup	ENSP00000367948.2:p.Leu2041GlnfsTer10
ENST00000488902.5:n.336-70626_336-70623dup
ENST00000619831.4:c.6118_6121dup	ENSP00000479270.1:p.Leu2041GlnfsTer10
ENST00000620040.4:c.6130_6133dup	ENSP00000478150.1:p.Leu2045GlnfsTer10
NM_000109.3:c.6106_6109dup	NP_000100.2:p.Leu2037GlnfsTer10
NM_004006.2:c.6130_6133dup , LRG_199t1:c.6130_6133dup	NP_003997.1:p.Leu2045GlnfsTer10
NM_004009.3:c.6118_6121dup	NP_004000.1:p.Leu2041GlnfsTer10
NM_004010.3:c.5761_5764dup	NP_004001.1:p.Leu1922GlnfsTer10
NM_004011.3:c.2107_2110dup	NP_004002.2:p.Leu704GlnfsTer10
NM_004012.3:c.2098_2101dup	NP_004003.1:p.Leu701GlnfsTer10
XM_006724468.2:c.6130_6133dup	XP_006724531.1:p.Leu2045GlnfsTer10
XM_006724469.2:c.6106_6109dup	XP_006724532.1:p.Leu2037GlnfsTer10
XM_006724470.2:c.6130_6133dup	XP_006724533.1:p.Leu2045GlnfsTer10
XM_006724471.2:c.6130_6133dup	XP_006724534.1:p.Leu2045GlnfsTer10
XM_006724472.2:c.6001_6004dup	XP_006724535.1:p.Leu2002GlnfsTer10
XM_006724473.2:c.5992_5995dup	XP_006724536.1:p.Leu1999GlnfsTer10
XM_006724474.2:c.6130_6133dup	XP_006724537.1:p.Leu2045GlnfsTer10
XM_006724475.2:c.6130_6133dup	XP_006724538.1:p.Leu2045GlnfsTer10
XM_011545467.1:c.6007_6010dup	XP_011543769.1:p.Leu2004GlnfsTer10
XM_011545468.1:c.6130_6133dup	XP_011543770.1:p.Leu2045GlnfsTer10
XM_006724469.3:c.6106_6109dup	XP_006724532.1:p.Leu2037GlnfsTer10
XM_006724470.3:c.6130_6133dup	XP_006724533.1:p.Leu2045GlnfsTer10
XM_006724474.3:c.6130_6133dup	XP_006724537.1:p.Leu2045GlnfsTer10
XM_011545468.2:c.6130_6133dup	XP_011543770.1:p.Leu2045GlnfsTer10
XM_017029328.1:c.6130_6133dup	XP_016884817.1:p.Leu2045GlnfsTer10
XM_017029329.1:c.6130_6133dup	XP_016884818.1:p.Leu2045GlnfsTer10
XM_017029330.2:c.6130_6133dup	XP_016884819.1:p.Leu2045GlnfsTer10
XM_017029331.1:c.304_307dup	XP_016884820.1:p.Leu103GlnfsTer10
NM_000109.4:c.6106_6109dup	NP_000100.3:p.Leu2037GlnfsTer10
NM_004006.3:c.6130_6133dup MANE Select	NP_003997.2:p.Leu2045GlnfsTer10
NM_004011.4:c.2107_2110dup	NP_004002.3:p.Leu704GlnfsTer10
NM_004012.4:c.2098_2101dup	NP_004003.2:p.Leu701GlnfsTer10