Canonical Allele Identifier: CA2580100685

Gene: DMD

Linked Data

• ClinVar Variation Id: 2017464
• ClinVar RCV Id: RCV002835220

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32345962del , CM000685.2:g.32345962del	GRCh38
NC_000023.10:g.32364079del , CM000685.1:g.32364079del	GRCh37
NC_000023.9:g.32274000del	NCBI36
NG_012232.1:g.998648del , LRG_199:g.998648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.413del	ENSP00000350765.3:p.Thr138LysfsTer9
ENST00000357033.9:c.5567del MANE Select	ENSP00000354923.3:p.Thr1856LysfsTer9
ENST00000619831.5:c.1535del	ENSP00000479270.2:p.Thr512LysfsTer9
ENST00000357033.8:c.5567del	ENSP00000354923.3:p.Thr1856LysfsTer9
ENST00000378677.6:c.5555del	ENSP00000367948.2:p.Thr1852LysfsTer9
ENST00000488902.5:n.336-128899del
ENST00000493412.1:c.224del	ENSP00000417725.1:p.Thr75LysfsTer9
ENST00000619831.4:c.5555del	ENSP00000479270.1:p.Thr1852LysfsTer9
ENST00000620040.4:c.5567del	ENSP00000478150.1:p.Thr1856LysfsTer9
NM_000109.3:c.5543del	NP_000100.2:p.Thr1848LysfsTer9
NM_004006.2:c.5567del , LRG_199t1:c.5567del	NP_003997.1:p.Thr1856LysfsTer9
NM_004009.3:c.5555del	NP_004000.1:p.Thr1852LysfsTer9
NM_004010.3:c.5198del	NP_004001.1:p.Thr1733LysfsTer9
NM_004011.3:c.1544del	NP_004002.2:p.Thr515LysfsTer9
NM_004012.3:c.1535del	NP_004003.1:p.Thr512LysfsTer9
XM_006724468.2:c.5567del	XP_006724531.1:p.Thr1856LysfsTer9
XM_006724469.2:c.5543del	XP_006724532.1:p.Thr1848LysfsTer9
XM_006724470.2:c.5567del	XP_006724533.1:p.Thr1856LysfsTer9
XM_006724471.2:c.5567del	XP_006724534.1:p.Thr1856LysfsTer9
XM_006724472.2:c.5438del	XP_006724535.1:p.Thr1813LysfsTer9
XM_006724473.2:c.5448+2444del	XP_006724536.1:n.5448+2444del
XM_006724474.2:c.5567del	XP_006724537.1:p.Thr1856LysfsTer9
XM_006724475.2:c.5567del	XP_006724538.1:p.Thr1856LysfsTer9
XM_011545467.1:c.5444del	XP_011543769.1:p.Thr1815LysfsTer9
XM_011545468.1:c.5567del	XP_011543770.1:p.Thr1856LysfsTer9
XM_011545469.1:c.5567del	XP_011543771.1:p.Thr1856LysfsTer9
XM_006724469.3:c.5543del	XP_006724532.1:p.Thr1848LysfsTer9
XM_006724470.3:c.5567del	XP_006724533.1:p.Thr1856LysfsTer9
XM_006724474.3:c.5567del	XP_006724537.1:p.Thr1856LysfsTer9
XM_011545468.2:c.5567del	XP_011543770.1:p.Thr1856LysfsTer9
XM_017029328.1:c.5567del	XP_016884817.1:p.Thr1856LysfsTer9
XM_017029329.1:c.5567del	XP_016884818.1:p.Thr1856LysfsTer9
XM_017029330.2:c.5567del	XP_016884819.1:p.Thr1856LysfsTer9
NM_000109.4:c.5543del	NP_000100.3:p.Thr1848LysfsTer9
NM_004006.3:c.5567del MANE Select	NP_003997.2:p.Thr1856LysfsTer9
NM_004011.4:c.1544del	NP_004002.3:p.Thr515LysfsTer9
NM_004012.4:c.1535del	NP_004003.2:p.Thr512LysfsTer9