Canonical Allele Identifier: CA2580100565

Gene: DMD

Linked Data

• ClinVar Variation Id: 1806434
• ClinVar RCV Id: RCV002471237

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31206605_31206612del , CM000685.2:g.31206605_31206612del	GRCh38
NC_000023.10:g.31224722_31224729del , CM000685.1:g.31224722_31224729del	GRCh37
NC_000023.9:g.31134643_31134650del	NCBI36
NG_012232.1:g.2137998_2138005del , LRG_199:g.2137998_2138005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4465_4472del	ENSP00000350765.3:p.Cys1489ThrfsTer21
ENST00000680162.2:c.415_422del	ENSP00000506634.2:p.Cys139ThrfsTer21
ENST00000680768.2:c.415_422del	ENSP00000506359.2:p.Cys139ThrfsTer21
ENST00000681989.1:n.417_424del
ENST00000682238.1:c.2239_2246del	ENSP00000508124.1:p.Cys747ThrfsTer21
ENST00000682322.1:c.415_422del	ENSP00000507690.1:p.Cys139ThrfsTer21
ENST00000682600.1:c.415_422del	ENSP00000507640.1:p.Cys139ThrfsTer21
ENST00000682769.1:n.417_424del
ENST00000683509.1:n.1136_1143del
ENST00000683675.1:n.718_725del
ENST00000683709.1:n.1137_1144del
ENST00000683957.1:n.3111_3118del
ENST00000684130.1:c.2239_2246del	ENSP00000508037.1:p.Cys747ThrfsTer21
ENST00000343523.7:c.1474_1481del	ENSP00000340057.4:p.Cys492ThrfsTer21
ENST00000357033.9:c.9619_9626del MANE Select	ENSP00000354923.3:p.Cys3207ThrfsTer21
ENST00000619831.5:c.5587_5594del	ENSP00000479270.2:p.Cys1863ThrfsTer21
ENST00000620040.5:c.2239_2246del	ENSP00000478150.2:p.Cys747ThrfsTer21
ENST00000679641.1:c.415_422del	ENSP00000506135.1:p.Cys139ThrfsTer21
ENST00000680162.1:c.292_299del	ENSP00000506634.1:p.Cys98ThrfsTer21
ENST00000680355.1:c.415_422del	ENSP00000506257.1:p.Cys139ThrfsTer21
ENST00000680557.1:c.415_422del	ENSP00000505164.1:p.Cys139ThrfsTer21
ENST00000680768.1:c.358_365del	ENSP00000506359.1:p.Cys120ThrfsTer21
ENST00000680961.1:c.2239_2246del	ENSP00000506386.1:p.Cys747ThrfsTer21
ENST00000681153.1:c.415_422del	ENSP00000505124.1:p.Cys139ThrfsTer21
ENST00000681334.1:c.415_422del	ENSP00000506066.1:p.Cys139ThrfsTer21
ENST00000681654.1:n.549_556del
ENST00000343523.6:c.1432_1439del	ENSP00000340057.3:p.Cys478ThrfsTer21
ENST00000357033.8:c.9619_9626del	ENSP00000354923.3:p.Cys3207ThrfsTer21
ENST00000358062.6:c.2707_2714del	ENSP00000350765.2:p.Cys903ThrfsTer21
ENST00000359836.5:c.2239_2246del	ENSP00000352894.1:p.Cys747ThrfsTer21
ENST00000361471.8:c.415_422del	ENSP00000354464.4:p.Cys139ThrfsTer21
ENST00000378677.6:c.9607_9614del	ENSP00000367948.2:p.Cys3203ThrfsTer21
ENST00000378680.6:c.415_422del	ENSP00000367951.2:p.Cys139ThrfsTer21
ENST00000378702.8:c.415_422del	ENSP00000367974.4:p.Cys139ThrfsTer21
ENST00000378707.7:c.2239_2246del	ENSP00000367979.3:p.Cys747ThrfsTer21
ENST00000378723.7:c.415_422del	ENSP00000367997.3:p.Cys139ThrfsTer21
ENST00000474231.5:c.2239_2246del	ENSP00000417123.1:p.Cys747ThrfsTer21
ENST00000541735.5:c.2239_2246del	ENSP00000444119.1:p.Cys747ThrfsTer21
ENST00000619831.4:c.9604_9611del	ENSP00000479270.1:p.Cys3202ThrfsTer21
ENST00000620040.4:c.9616_9623del	ENSP00000478150.1:p.Cys3206ThrfsTer21
NM_000109.3:c.9595_9602del	NP_000100.2:p.Cys3199ThrfsTer21
NM_004006.2:c.9619_9626del , LRG_199t1:c.9619_9626del	NP_003997.1:p.Cys3207ThrfsTer21
NM_004009.3:c.9607_9614del	NP_004000.1:p.Cys3203ThrfsTer21
NM_004010.3:c.9250_9257del	NP_004001.1:p.Cys3084ThrfsTer21
NM_004011.3:c.5596_5603del	NP_004002.2:p.Cys1866ThrfsTer21
NM_004012.3:c.5587_5594del	NP_004003.1:p.Cys1863ThrfsTer21
NM_004013.2:c.2239_2246del	NP_004004.1:p.Cys747ThrfsTer21
NM_004014.2:c.1432_1439del	NP_004005.1:p.Cys478ThrfsTer21
NM_004015.2:c.415_422del	NP_004006.1:p.Cys139ThrfsTer21
NM_004016.2:c.415_422del	NP_004007.1:p.Cys139ThrfsTer21
NM_004017.2:c.415_422del	NP_004008.1:p.Cys139ThrfsTer21
NM_004018.2:c.415_422del	NP_004009.1:p.Cys139ThrfsTer21
NM_004019.2:c.415_422del	NP_004010.1:p.Cys139ThrfsTer21
NM_004020.3:c.2239_2246del	NP_004011.2:p.Cys747ThrfsTer21
NM_004021.2:c.2239_2246del	NP_004012.1:p.Cys747ThrfsTer21
NM_004022.2:c.2239_2246del	NP_004013.1:p.Cys747ThrfsTer21
NM_004023.2:c.2239_2246del	NP_004014.1:p.Cys747ThrfsTer21
XM_006724468.2:c.9619_9626del	XP_006724531.1:p.Cys3207ThrfsTer21
XM_006724469.2:c.9595_9602del	XP_006724532.1:p.Cys3199ThrfsTer21
XM_006724470.2:c.9619_9626del	XP_006724533.1:p.Cys3207ThrfsTer21
XM_006724471.2:c.9619_9626del	XP_006724534.1:p.Cys3207ThrfsTer21
XM_006724472.2:c.9490_9497del	XP_006724535.1:p.Cys3164ThrfsTer21
XM_006724473.2:c.9481_9488del	XP_006724536.1:p.Cys3161ThrfsTer21
XM_006724474.2:c.9619_9626del	XP_006724537.1:p.Cys3207ThrfsTer21
XM_006724475.2:c.9619_9626del	XP_006724538.1:p.Cys3207ThrfsTer21
XM_011545467.1:c.9496_9503del	XP_011543769.1:p.Cys3166ThrfsTer21
XM_011545468.1:c.9619_9626del	XP_011543770.1:p.Cys3207ThrfsTer21
XM_006724469.3:c.9595_9602del	XP_006724532.1:p.Cys3199ThrfsTer21
XM_006724470.3:c.9619_9626del	XP_006724533.1:p.Cys3207ThrfsTer21
XM_006724474.3:c.9619_9626del	XP_006724537.1:p.Cys3207ThrfsTer21
XM_011545468.2:c.9619_9626del	XP_011543770.1:p.Cys3207ThrfsTer21
XM_017029328.1:c.9619_9626del	XP_016884817.1:p.Cys3207ThrfsTer21
XM_017029331.1:c.3793_3800del	XP_016884820.1:p.Cys1265ThrfsTer21
NM_000109.4:c.9595_9602del	NP_000100.3:p.Cys3199ThrfsTer21
NM_004006.3:c.9619_9626del MANE Select	NP_003997.2:p.Cys3207ThrfsTer21
NM_004011.4:c.5596_5603del	NP_004002.3:p.Cys1866ThrfsTer21
NM_004012.4:c.5587_5594del	NP_004003.2:p.Cys1863ThrfsTer21
NM_004015.3:c.415_422del	NP_004006.1:p.Cys139ThrfsTer21
NM_004016.3:c.415_422del	NP_004007.1:p.Cys139ThrfsTer21
NM_004017.3:c.415_422del	NP_004008.1:p.Cys139ThrfsTer21
NM_004018.3:c.415_422del	NP_004009.1:p.Cys139ThrfsTer21
NM_004019.3:c.415_422del	NP_004010.1:p.Cys139ThrfsTer21
NM_004021.3:c.2239_2246del	NP_004012.2:p.Cys747ThrfsTer21
NM_004023.3:c.2239_2246del	NP_004014.2:p.Cys747ThrfsTer21
NM_004013.3:c.2239_2246del	NP_004004.2:p.Cys747ThrfsTer21
NM_004014.3:c.1432_1439del	NP_004005.2:p.Cys478ThrfsTer21
NM_004020.4:c.2239_2246del	NP_004011.3:p.Cys747ThrfsTer21
NM_004022.3:c.2239_2246del	NP_004013.2:p.Cys747ThrfsTer21