Canonical Allele Identifier: CA2695231776

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31178787del , CM000685.2:g.31178787del	GRCh38
NC_000023.10:g.31196904del , CM000685.1:g.31196904del	GRCh37
NC_000023.9:g.31106825del	NCBI36
NG_012232.1:g.2165823del , LRG_199:g.2165823del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.4951del	ENSP00000350765.3:p.Val1651PhefsTer8
ENST00000475732.3:n.2452del
ENST00000680162.2:c.901del	ENSP00000506634.2:p.Val301PhefsTer8
ENST00000680768.2:c.901del	ENSP00000506359.2:p.Val301PhefsTer8
ENST00000681989.1:n.903del
ENST00000682238.1:c.2725del	ENSP00000508124.1:p.Val909PhefsTer8
ENST00000682322.1:c.901del	ENSP00000507690.1:p.Val301PhefsTer8
ENST00000682600.1:c.901del	ENSP00000507640.1:p.Val301PhefsTer8
ENST00000682769.1:n.736del
ENST00000683509.1:n.1622del
ENST00000683675.1:n.1204del
ENST00000683709.1:n.1623del
ENST00000683957.1:n.3597del
ENST00000684130.1:c.2725del	ENSP00000508037.1:p.Val909PhefsTer8
ENST00000343523.7:c.1960del	ENSP00000340057.4:p.Val654PhefsTer8
ENST00000357033.9:c.10105del MANE Select	ENSP00000354923.3:p.Val3369PhefsTer8
ENST00000475732.2:n.471del
ENST00000619831.5:c.6073del	ENSP00000479270.2:p.Val2025PhefsTer8
ENST00000620040.5:c.2725del	ENSP00000478150.2:p.Val909PhefsTer8
ENST00000679641.1:c.*107del	ENSP00000506135.1:n.*107del
ENST00000679706.1:c.62del
ENST00000680162.1:c.778del	ENSP00000506634.1:p.Val260PhefsTer8
ENST00000680355.1:c.901del	ENSP00000506257.1:p.Val301PhefsTer8
ENST00000680557.1:c.603+25174del	ENSP00000505164.1:n.603+25174del
ENST00000680768.1:c.844del	ENSP00000506359.1:p.Val282PhefsTer8
ENST00000680961.1:c.*107del	ENSP00000506386.1:n.*107del
ENST00000681153.1:c.901del	ENSP00000505124.1:p.Val301PhefsTer8
ENST00000681654.1:n.1035del
ENST00000343523.6:c.1918del	ENSP00000340057.3:p.Val640PhefsTer8
ENST00000357033.8:c.10105del	ENSP00000354923.3:p.Val3369PhefsTer8
ENST00000358062.6:c.3193del	ENSP00000350765.2:p.Val1065PhefsTer8
ENST00000359836.5:c.2725del	ENSP00000352894.1:p.Val909PhefsTer8
ENST00000361471.8:c.901del	ENSP00000354464.4:p.Val301PhefsTer8
ENST00000378677.6:c.10093del	ENSP00000367948.2:p.Val3365PhefsTer8
ENST00000378680.6:c.901del	ENSP00000367951.2:p.Val301PhefsTer8
ENST00000378702.8:c.901del	ENSP00000367974.4:p.Val301PhefsTer8
ENST00000378705.3:c.475del	ENSP00000367977.3:p.Val159PhefsTer8
ENST00000378707.7:c.2725del	ENSP00000367979.3:p.Val909PhefsTer8
ENST00000378723.7:c.901del	ENSP00000367997.3:p.Val301PhefsTer8
ENST00000474231.5:c.2725del	ENSP00000417123.1:p.Val909PhefsTer8
ENST00000475732.1:n.321del
ENST00000541735.5:c.2725del	ENSP00000444119.1:p.Val909PhefsTer8
ENST00000619831.4:c.10090del	ENSP00000479270.1:p.Val3364PhefsTer8
ENST00000620040.4:c.10102del	ENSP00000478150.1:p.Val3368PhefsTer8
NM_000109.3:c.10081del	NP_000100.2:p.Val3361PhefsTer8
NM_004006.2:c.10105del , LRG_199t1:c.10105del	NP_003997.1:p.Val3369PhefsTer8
NM_004009.3:c.10093del	NP_004000.1:p.Val3365PhefsTer8
NM_004010.3:c.9736del	NP_004001.1:p.Val3246PhefsTer8
NM_004011.3:c.6082del	NP_004002.2:p.Val2028PhefsTer8
NM_004012.3:c.6073del	NP_004003.1:p.Val2025PhefsTer8
NM_004013.2:c.2725del	NP_004004.1:p.Val909PhefsTer8
NM_004014.2:c.1918del	NP_004005.1:p.Val640PhefsTer8
NM_004015.2:c.901del	NP_004006.1:p.Val301PhefsTer8
NM_004016.2:c.901del	NP_004007.1:p.Val301PhefsTer8
NM_004017.2:c.901del	NP_004008.1:p.Val301PhefsTer8
NM_004018.2:c.901del	NP_004009.1:p.Val301PhefsTer8
NM_004019.2:c.901del	NP_004010.1:p.Val301PhefsTer8
NM_004020.3:c.2725del	NP_004011.2:p.Val909PhefsTer8
NM_004021.2:c.2725del	NP_004012.1:p.Val909PhefsTer8
NM_004022.2:c.2725del	NP_004013.1:p.Val909PhefsTer8
NM_004023.2:c.2725del	NP_004014.1:p.Val909PhefsTer8
XM_006724468.2:c.10105del	XP_006724531.1:p.Val3369PhefsTer8
XM_006724469.2:c.10081del	XP_006724532.1:p.Val3361PhefsTer8
XM_006724470.2:c.10105del	XP_006724533.1:p.Val3369PhefsTer8
XM_006724471.2:c.10105del	XP_006724534.1:p.Val3369PhefsTer8
XM_006724472.2:c.9976del	XP_006724535.1:p.Val3326PhefsTer8
XM_006724473.2:c.9967del	XP_006724536.1:p.Val3323PhefsTer8
XM_006724474.2:c.10105del	XP_006724537.1:p.Val3369PhefsTer8
XM_006724475.2:c.10105del	XP_006724538.1:p.Val3369PhefsTer8
XM_011545467.1:c.9982del	XP_011543769.1:p.Val3328PhefsTer8
XM_006724469.3:c.10081del	XP_006724532.1:p.Val3361PhefsTer8
XM_006724470.3:c.10105del	XP_006724533.1:p.Val3369PhefsTer8
XM_006724474.3:c.10105del	XP_006724537.1:p.Val3369PhefsTer8
XM_017029328.1:c.10105del	XP_016884817.1:p.Val3369PhefsTer8
XM_017029331.1:c.4279del	XP_016884820.1:p.Val1427PhefsTer8
NM_000109.4:c.10081del	NP_000100.3:p.Val3361PhefsTer8
NM_004006.3:c.10105del MANE Select	NP_003997.2:p.Val3369PhefsTer8
NM_004011.4:c.6082del	NP_004002.3:p.Val2028PhefsTer8
NM_004012.4:c.6073del	NP_004003.2:p.Val2025PhefsTer8
NM_004015.3:c.901del	NP_004006.1:p.Val301PhefsTer8
NM_004016.3:c.901del	NP_004007.1:p.Val301PhefsTer8
NM_004017.3:c.901del	NP_004008.1:p.Val301PhefsTer8
NM_004018.3:c.901del	NP_004009.1:p.Val301PhefsTer8
NM_004019.3:c.901del	NP_004010.1:p.Val301PhefsTer8
NM_004021.3:c.2725del	NP_004012.2:p.Val909PhefsTer8
NM_004023.3:c.2725del	NP_004014.2:p.Val909PhefsTer8
NM_004013.3:c.2725del	NP_004004.2:p.Val909PhefsTer8
NM_004014.3:c.1918del	NP_004005.2:p.Val640PhefsTer8
NM_004020.4:c.2725del	NP_004011.3:p.Val909PhefsTer8
NM_004022.3:c.2725del	NP_004013.2:p.Val909PhefsTer8