Canonical Allele Identifier: CA2580100631

Gene: DMD

Linked Data

• ClinVar Variation Id: 1806423
• ClinVar RCV Id: RCV002471226

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287648del , CM000685.2:g.32287648del	GRCh38
NC_000023.10:g.32305765del , CM000685.1:g.32305765del	GRCh37
NC_000023.9:g.32215686del	NCBI36
NG_012232.1:g.1056962del , LRG_199:g.1056962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1017del	ENSP00000350765.3:p.Ser339ArgfsTer16
ENST00000357033.9:c.6171del MANE Select	ENSP00000354923.3:p.Ser2057ArgfsTer16
ENST00000619831.5:c.2139del	ENSP00000479270.2:p.Ser713ArgfsTer16
ENST00000357033.8:c.6171del	ENSP00000354923.3:p.Ser2057ArgfsTer16
ENST00000378677.6:c.6159del	ENSP00000367948.2:p.Ser2053ArgfsTer16
ENST00000488902.5:n.336-70585del
ENST00000619831.4:c.6159del	ENSP00000479270.1:p.Ser2053ArgfsTer16
ENST00000620040.4:c.6171del	ENSP00000478150.1:p.Ser2057ArgfsTer16
NM_000109.3:c.6147del	NP_000100.2:p.Ser2049ArgfsTer16
NM_004006.2:c.6171del , LRG_199t1:c.6171del	NP_003997.1:p.Ser2057ArgfsTer16
NM_004009.3:c.6159del	NP_004000.1:p.Ser2053ArgfsTer16
NM_004010.3:c.5802del	NP_004001.1:p.Ser1934ArgfsTer16
NM_004011.3:c.2148del	NP_004002.2:p.Ser716ArgfsTer16
NM_004012.3:c.2139del	NP_004003.1:p.Ser713ArgfsTer16
XM_006724468.2:c.6171del	XP_006724531.1:p.Ser2057ArgfsTer16
XM_006724469.2:c.6147del	XP_006724532.1:p.Ser2049ArgfsTer16
XM_006724470.2:c.6171del	XP_006724533.1:p.Ser2057ArgfsTer16
XM_006724471.2:c.6171del	XP_006724534.1:p.Ser2057ArgfsTer16
XM_006724472.2:c.6042del	XP_006724535.1:p.Ser2014ArgfsTer16
XM_006724473.2:c.6033del	XP_006724536.1:p.Ser2011ArgfsTer16
XM_006724474.2:c.6171del	XP_006724537.1:p.Ser2057ArgfsTer16
XM_006724475.2:c.6171del	XP_006724538.1:p.Ser2057ArgfsTer16
XM_011545467.1:c.6048del	XP_011543769.1:p.Ser2016ArgfsTer16
XM_011545468.1:c.6171del	XP_011543770.1:p.Ser2057ArgfsTer16
XM_006724469.3:c.6147del	XP_006724532.1:p.Ser2049ArgfsTer16
XM_006724470.3:c.6171del	XP_006724533.1:p.Ser2057ArgfsTer16
XM_006724474.3:c.6171del	XP_006724537.1:p.Ser2057ArgfsTer16
XM_011545468.2:c.6171del	XP_011543770.1:p.Ser2057ArgfsTer16
XM_017029328.1:c.6171del	XP_016884817.1:p.Ser2057ArgfsTer16
XM_017029329.1:c.6171del	XP_016884818.1:p.Ser2057ArgfsTer16
XM_017029330.2:c.6171del	XP_016884819.1:p.Ser2057ArgfsTer16
XM_017029331.1:c.345del	XP_016884820.1:p.Ser115ArgfsTer16
NM_000109.4:c.6147del	NP_000100.3:p.Ser2049ArgfsTer16
NM_004006.3:c.6171del MANE Select	NP_003997.2:p.Ser2057ArgfsTer16
NM_004011.4:c.2148del	NP_004002.3:p.Ser716ArgfsTer16
NM_004012.4:c.2139del	NP_004003.2:p.Ser713ArgfsTer16