Canonical Allele Identifier: CA2573158744

Gene: DMD

Linked Data

• ClinVar Variation Id: 1685713
• ClinVar RCV Id: RCV002249880
• dbSNP Id: rs2147648529

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31260958_31260959del , CM000685.2:g.31260958_31260959del	GRCh38
NC_000023.10:g.31279075_31279076del , CM000685.1:g.31279075_31279076del	GRCh37
NC_000023.9:g.31188996_31188997del	NCBI36
NG_012232.1:g.2083652_2083653del , LRG_199:g.2083652_2083653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4129_4130del	ENSP00000350765.3:p.Leu1377SerfsTer2
ENST00000680162.2:c.79_80del	ENSP00000506634.2:p.Leu27SerfsTer2
ENST00000680768.2:c.79_80del	ENSP00000506359.2:p.Leu27SerfsTer2
ENST00000682238.1:c.1903_1904del	ENSP00000508124.1:p.Leu635SerfsTer2
ENST00000682322.1:c.79_80del	ENSP00000507690.1:p.Leu27SerfsTer2
ENST00000682600.1:c.79_80del	ENSP00000507640.1:p.Leu27SerfsTer2
ENST00000683509.1:n.800_801del
ENST00000683675.1:n.382_383del
ENST00000683709.1:n.801_802del
ENST00000683957.1:n.2775_2776del
ENST00000684130.1:c.1903_1904del	ENSP00000508037.1:p.Leu635SerfsTer2
ENST00000343523.7:c.1138_1139del	ENSP00000340057.4:p.Leu380SerfsTer2
ENST00000357033.9:c.9283_9284del MANE Select	ENSP00000354923.3:p.Leu3095SerfsTer2
ENST00000619831.5:c.5251_5252del	ENSP00000479270.2:p.Leu1751SerfsTer2
ENST00000620040.5:c.1903_1904del	ENSP00000478150.2:p.Leu635SerfsTer2
ENST00000679641.1:c.79_80del	ENSP00000506135.1:p.Leu27SerfsTer2
ENST00000680216.1:c.59_60del
ENST00000680355.1:c.79_80del	ENSP00000506257.1:p.Leu27SerfsTer2
ENST00000680557.1:c.79_80del	ENSP00000505164.1:p.Leu27SerfsTer2
ENST00000680768.1:c.22_23del	ENSP00000506359.1:p.Leu8SerfsTer2
ENST00000680961.1:c.1903_1904del	ENSP00000506386.1:p.Leu635SerfsTer2
ENST00000681153.1:c.79_80del	ENSP00000505124.1:p.Leu27SerfsTer2
ENST00000681334.1:c.79_80del	ENSP00000506066.1:p.Leu27SerfsTer2
ENST00000681646.1:n.2944_2945del
ENST00000681654.1:n.213_214del
ENST00000681870.1:c.79_80del	ENSP00000506709.1:p.Leu27SerfsTer5
ENST00000343523.6:c.1096_1097del	ENSP00000340057.3:p.Leu366SerfsTer2
ENST00000357033.8:c.9283_9284del	ENSP00000354923.3:p.Leu3095SerfsTer2
ENST00000358062.6:c.2371_2372del	ENSP00000350765.2:p.Leu791SerfsTer2
ENST00000359836.5:c.1903_1904del	ENSP00000352894.1:p.Leu635SerfsTer2
ENST00000361471.8:c.79_80del	ENSP00000354464.4:p.Leu27SerfsTer2
ENST00000378677.6:c.9271_9272del	ENSP00000367948.2:p.Leu3091SerfsTer2
ENST00000378680.6:c.79_80del	ENSP00000367951.2:p.Leu27SerfsTer2
ENST00000378702.8:c.79_80del	ENSP00000367974.4:p.Leu27SerfsTer2
ENST00000378707.7:c.1903_1904del	ENSP00000367979.3:p.Leu635SerfsTer2
ENST00000378723.7:c.79_80del	ENSP00000367997.3:p.Leu27SerfsTer2
ENST00000469142.1:n.302_303del
ENST00000474231.5:c.1903_1904del	ENSP00000417123.1:p.Leu635SerfsTer2
ENST00000541735.5:c.1903_1904del	ENSP00000444119.1:p.Leu635SerfsTer2
ENST00000619831.4:c.9268_9269del	ENSP00000479270.1:p.Leu3090SerfsTer2
ENST00000620040.4:c.9280_9281del	ENSP00000478150.1:p.Leu3094SerfsTer2
NM_000109.3:c.9259_9260del	NP_000100.2:p.Leu3087SerfsTer2
NM_004006.2:c.9283_9284del , LRG_199t1:c.9283_9284del	NP_003997.1:p.Leu3095SerfsTer2
NM_004009.3:c.9271_9272del	NP_004000.1:p.Leu3091SerfsTer2
NM_004010.3:c.8914_8915del	NP_004001.1:p.Leu2972SerfsTer2
NM_004011.3:c.5260_5261del	NP_004002.2:p.Leu1754SerfsTer2
NM_004012.3:c.5251_5252del	NP_004003.1:p.Leu1751SerfsTer2
NM_004013.2:c.1903_1904del	NP_004004.1:p.Leu635SerfsTer2
NM_004014.2:c.1096_1097del	NP_004005.1:p.Leu366SerfsTer2
NM_004015.2:c.79_80del	NP_004006.1:p.Leu27SerfsTer2
NM_004016.2:c.79_80del	NP_004007.1:p.Leu27SerfsTer2
NM_004017.2:c.79_80del	NP_004008.1:p.Leu27SerfsTer2
NM_004018.2:c.79_80del	NP_004009.1:p.Leu27SerfsTer2
NM_004019.2:c.79_80del	NP_004010.1:p.Leu27SerfsTer2
NM_004020.3:c.1903_1904del	NP_004011.2:p.Leu635SerfsTer2
NM_004021.2:c.1903_1904del	NP_004012.1:p.Leu635SerfsTer2
NM_004022.2:c.1903_1904del	NP_004013.1:p.Leu635SerfsTer2
NM_004023.2:c.1903_1904del	NP_004014.1:p.Leu635SerfsTer2
XM_006724468.2:c.9283_9284del	XP_006724531.1:p.Leu3095SerfsTer2
XM_006724469.2:c.9259_9260del	XP_006724532.1:p.Leu3087SerfsTer2
XM_006724470.2:c.9283_9284del	XP_006724533.1:p.Leu3095SerfsTer2
XM_006724471.2:c.9283_9284del	XP_006724534.1:p.Leu3095SerfsTer2
XM_006724472.2:c.9154_9155del	XP_006724535.1:p.Leu3052SerfsTer2
XM_006724473.2:c.9145_9146del	XP_006724536.1:p.Leu3049SerfsTer2
XM_006724474.2:c.9283_9284del	XP_006724537.1:p.Leu3095SerfsTer2
XM_006724475.2:c.9283_9284del	XP_006724538.1:p.Leu3095SerfsTer2
XM_011545467.1:c.9160_9161del	XP_011543769.1:p.Leu3054SerfsTer2
XM_011545468.1:c.9283_9284del	XP_011543770.1:p.Leu3095SerfsTer2
XM_006724469.3:c.9259_9260del	XP_006724532.1:p.Leu3087SerfsTer2
XM_006724470.3:c.9283_9284del	XP_006724533.1:p.Leu3095SerfsTer2
XM_006724474.3:c.9283_9284del	XP_006724537.1:p.Leu3095SerfsTer2
XM_011545468.2:c.9283_9284del	XP_011543770.1:p.Leu3095SerfsTer2
XM_017029328.1:c.9283_9284del	XP_016884817.1:p.Leu3095SerfsTer2
XM_017029331.1:c.3457_3458del	XP_016884820.1:p.Leu1153SerfsTer2
NM_000109.4:c.9259_9260del	NP_000100.3:p.Leu3087SerfsTer2
NM_004006.3:c.9283_9284del MANE Select	NP_003997.2:p.Leu3095SerfsTer2
NM_004011.4:c.5260_5261del	NP_004002.3:p.Leu1754SerfsTer2
NM_004012.4:c.5251_5252del	NP_004003.2:p.Leu1751SerfsTer2
NM_004015.3:c.79_80del	NP_004006.1:p.Leu27SerfsTer2
NM_004016.3:c.79_80del	NP_004007.1:p.Leu27SerfsTer2
NM_004017.3:c.79_80del	NP_004008.1:p.Leu27SerfsTer2
NM_004018.3:c.79_80del	NP_004009.1:p.Leu27SerfsTer2
NM_004019.3:c.79_80del	NP_004010.1:p.Leu27SerfsTer2
NM_004021.3:c.1903_1904del	NP_004012.2:p.Leu635SerfsTer2
NM_004023.3:c.1903_1904del	NP_004014.2:p.Leu635SerfsTer2
NM_004013.3:c.1903_1904del	NP_004004.2:p.Leu635SerfsTer2
NM_004014.3:c.1096_1097del	NP_004005.2:p.Leu366SerfsTer2
NM_004020.4:c.1903_1904del	NP_004011.3:p.Leu635SerfsTer2
NM_004022.3:c.1903_1904del	NP_004013.2:p.Leu635SerfsTer2