Canonical Allele Identifier: CA2580100635

Gene: DMD

Linked Data

• ClinVar Variation Id: 1806424
• ClinVar RCV Id: RCV002471227

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287672del , CM000685.2:g.32287672del	GRCh38
NC_000023.10:g.32305789del , CM000685.1:g.32305789del	GRCh37
NC_000023.9:g.32215710del	NCBI36
NG_012232.1:g.1056938del , LRG_199:g.1056938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.993del	ENSP00000350765.3:p.Gly332ValfsTer23
ENST00000357033.9:c.6147del MANE Select	ENSP00000354923.3:p.Gly2050ValfsTer23
ENST00000619831.5:c.2115del	ENSP00000479270.2:p.Gly706ValfsTer23
ENST00000357033.8:c.6147del	ENSP00000354923.3:p.Gly2050ValfsTer23
ENST00000378677.6:c.6135del	ENSP00000367948.2:p.Gly2046ValfsTer23
ENST00000488902.5:n.336-70609del
ENST00000619831.4:c.6135del	ENSP00000479270.1:p.Gly2046ValfsTer23
ENST00000620040.4:c.6147del	ENSP00000478150.1:p.Gly2050ValfsTer23
NM_000109.3:c.6123del	NP_000100.2:p.Gly2042ValfsTer23
NM_004006.2:c.6147del , LRG_199t1:c.6147del	NP_003997.1:p.Gly2050ValfsTer23
NM_004009.3:c.6135del	NP_004000.1:p.Gly2046ValfsTer23
NM_004010.3:c.5778del	NP_004001.1:p.Gly1927ValfsTer23
NM_004011.3:c.2124del	NP_004002.2:p.Gly709ValfsTer23
NM_004012.3:c.2115del	NP_004003.1:p.Gly706ValfsTer23
XM_006724468.2:c.6147del	XP_006724531.1:p.Gly2050ValfsTer23
XM_006724469.2:c.6123del	XP_006724532.1:p.Gly2042ValfsTer23
XM_006724470.2:c.6147del	XP_006724533.1:p.Gly2050ValfsTer23
XM_006724471.2:c.6147del	XP_006724534.1:p.Gly2050ValfsTer23
XM_006724472.2:c.6018del	XP_006724535.1:p.Gly2007ValfsTer23
XM_006724473.2:c.6009del	XP_006724536.1:p.Gly2004ValfsTer23
XM_006724474.2:c.6147del	XP_006724537.1:p.Gly2050ValfsTer23
XM_006724475.2:c.6147del	XP_006724538.1:p.Gly2050ValfsTer23
XM_011545467.1:c.6024del	XP_011543769.1:p.Gly2009ValfsTer23
XM_011545468.1:c.6147del	XP_011543770.1:p.Gly2050ValfsTer23
XM_006724469.3:c.6123del	XP_006724532.1:p.Gly2042ValfsTer23
XM_006724470.3:c.6147del	XP_006724533.1:p.Gly2050ValfsTer23
XM_006724474.3:c.6147del	XP_006724537.1:p.Gly2050ValfsTer23
XM_011545468.2:c.6147del	XP_011543770.1:p.Gly2050ValfsTer23
XM_017029328.1:c.6147del	XP_016884817.1:p.Gly2050ValfsTer23
XM_017029329.1:c.6147del	XP_016884818.1:p.Gly2050ValfsTer23
XM_017029330.2:c.6147del	XP_016884819.1:p.Gly2050ValfsTer23
XM_017029331.1:c.321del	XP_016884820.1:p.Gly108ValfsTer23
NM_000109.4:c.6123del	NP_000100.3:p.Gly2042ValfsTer23
NM_004006.3:c.6147del MANE Select	NP_003997.2:p.Gly2050ValfsTer23
NM_004011.4:c.2124del	NP_004002.3:p.Gly709ValfsTer23
NM_004012.4:c.2115del	NP_004003.2:p.Gly706ValfsTer23