Canonical Allele Identifier: CA2695232716

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287636dup , CM000685.2:g.32287636dup	GRCh38
NC_000023.10:g.32305753dup , CM000685.1:g.32305753dup	GRCh37
NC_000023.9:g.32215674dup	NCBI36
NG_012232.1:g.1056974dup , LRG_199:g.1056974dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1029dup	ENSP00000350765.3:p.Ala344SerfsTer21
ENST00000357033.9:c.6183dup MANE Select	ENSP00000354923.3:p.Ala2062SerfsTer21
ENST00000619831.5:c.2151dup	ENSP00000479270.2:p.Ala718SerfsTer21
ENST00000357033.8:c.6183dup	ENSP00000354923.3:p.Ala2062SerfsTer21
ENST00000378677.6:c.6171dup	ENSP00000367948.2:p.Ala2058SerfsTer21
ENST00000488902.5:n.336-70573dup
ENST00000619831.4:c.6171dup	ENSP00000479270.1:p.Ala2058SerfsTer21
ENST00000620040.4:c.6183dup	ENSP00000478150.1:p.Ala2062SerfsTer21
NM_000109.3:c.6159dup	NP_000100.2:p.Ala2054SerfsTer21
NM_004006.2:c.6183dup , LRG_199t1:c.6183dup	NP_003997.1:p.Ala2062SerfsTer21
NM_004009.3:c.6171dup	NP_004000.1:p.Ala2058SerfsTer21
NM_004010.3:c.5814dup	NP_004001.1:p.Ala1939SerfsTer21
NM_004011.3:c.2160dup	NP_004002.2:p.Ala721SerfsTer21
NM_004012.3:c.2151dup	NP_004003.1:p.Ala718SerfsTer21
XM_006724468.2:c.6183dup	XP_006724531.1:p.Ala2062SerfsTer21
XM_006724469.2:c.6159dup	XP_006724532.1:p.Ala2054SerfsTer21
XM_006724470.2:c.6183dup	XP_006724533.1:p.Ala2062SerfsTer21
XM_006724471.2:c.6183dup	XP_006724534.1:p.Ala2062SerfsTer21
XM_006724472.2:c.6054dup	XP_006724535.1:p.Ala2019SerfsTer21
XM_006724473.2:c.6045dup	XP_006724536.1:p.Ala2016SerfsTer21
XM_006724474.2:c.6183dup	XP_006724537.1:p.Ala2062SerfsTer21
XM_006724475.2:c.6183dup	XP_006724538.1:p.Ala2062SerfsTer21
XM_011545467.1:c.6060dup	XP_011543769.1:p.Ala2021SerfsTer21
XM_011545468.1:c.6183dup	XP_011543770.1:p.Ala2062SerfsTer21
XM_006724469.3:c.6159dup	XP_006724532.1:p.Ala2054SerfsTer21
XM_006724470.3:c.6183dup	XP_006724533.1:p.Ala2062SerfsTer21
XM_006724474.3:c.6183dup	XP_006724537.1:p.Ala2062SerfsTer21
XM_011545468.2:c.6183dup	XP_011543770.1:p.Ala2062SerfsTer21
XM_017029328.1:c.6183dup	XP_016884817.1:p.Ala2062SerfsTer21
XM_017029329.1:c.6183dup	XP_016884818.1:p.Ala2062SerfsTer21
XM_017029330.2:c.6183dup	XP_016884819.1:p.Ala2062SerfsTer21
XM_017029331.1:c.357dup	XP_016884820.1:p.Ala120SerfsTer21
NM_000109.4:c.6159dup	NP_000100.3:p.Ala2054SerfsTer21
NM_004006.3:c.6183dup MANE Select	NP_003997.2:p.Ala2062SerfsTer21
NM_004011.4:c.2160dup	NP_004002.3:p.Ala721SerfsTer21
NM_004012.4:c.2151dup	NP_004003.2:p.Ala718SerfsTer21