Canonical Allele Identifier: CA412648426

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31146289A>G , CM000685.2:g.31146289A>G	GRCh38
NC_000023.10:g.31164406A>G , CM000685.1:g.31164406A>G	GRCh37
NC_000023.9:g.31074327A>G	NCBI36
NG_012232.1:g.2198321T>C , LRG_199:g.2198321T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.10921+2T>C MANE Select	NP_003997.2:n.10921+2T>C
ENST00000357033.9:c.10921+2T>C MANE Select	ENSP00000354923.3:n.10921+2T>C
NM_000109.3:c.10897+2T>C	NP_000100.2:n.10897+2T>C
NM_000109.4:c.10897+2T>C	NP_000100.3:n.10897+2T>C
NM_004006.2:c.10921+2T>C , LRG_199t1:c.10921+2T>C	NP_003997.1:n.10921+2T>C
NM_004009.3:c.10909+2T>C	NP_004000.1:n.10909+2T>C
NM_004010.3:c.10552+2T>C	NP_004001.1:n.10552+2T>C
NM_004011.3:c.6898+2T>C	NP_004002.2:n.6898+2T>C
NM_004011.4:c.6898+2T>C	NP_004002.3:n.6898+2T>C
NM_004012.3:c.6889+2T>C	NP_004003.1:n.6889+2T>C
NM_004012.4:c.6889+2T>C	NP_004003.2:n.6889+2T>C
NM_004013.2:c.3541+2T>C	NP_004004.1:n.3541+2T>C
NM_004013.3:c.3541+2T>C	NP_004004.2:n.3541+2T>C
NM_004014.2:c.2734+2T>C	NP_004005.1:n.2734+2T>C
NM_004014.3:c.2734+2T>C	NP_004005.2:n.2734+2T>C
NM_004015.2:c.1717+2T>C	NP_004006.1:n.1717+2T>C
NM_004015.3:c.1717+2T>C	NP_004006.1:n.1717+2T>C
NM_004016.2:c.1717+2T>C	NP_004007.1:n.1717+2T>C
NM_004016.3:c.1717+2T>C	NP_004007.1:n.1717+2T>C
NM_004017.2:c.1678+2T>C	NP_004008.1:n.1678+2T>C
NM_004017.3:c.1678+2T>C	NP_004008.1:n.1678+2T>C
NM_004018.2:c.1678+2T>C	NP_004009.1:n.1678+2T>C
NM_004018.3:c.1678+2T>C	NP_004009.1:n.1678+2T>C
NM_004020.3:c.3211+2T>C	NP_004011.2:n.3211+2T>C
NM_004020.4:c.3211+2T>C	NP_004011.3:n.3211+2T>C
NM_004021.2:c.3541+2T>C	NP_004012.1:n.3541+2T>C
NM_004021.3:c.3541+2T>C	NP_004012.2:n.3541+2T>C
NM_004022.2:c.3502+2T>C	NP_004013.1:n.3502+2T>C
NM_004022.3:c.3502+2T>C	NP_004013.2:n.3502+2T>C
NM_004023.2:c.3211+2T>C	NP_004014.1:n.3211+2T>C
NM_004023.3:c.3211+2T>C	NP_004014.2:n.3211+2T>C
ENST00000343523.6:c.2734+2T>C	ENSP00000340057.3:n.2734+2T>C
ENST00000343523.7:c.2776+2T>C	ENSP00000340057.4:n.2776+2T>C
ENST00000357033.8:c.10921+2T>C	ENSP00000354923.3:n.10921+2T>C
ENST00000358062.6:c.3970+2T>C	ENSP00000350765.2:n.3970+2T>C
ENST00000358062.7:c.5728+2T>C	ENSP00000350765.3:n.5728+2T>C
ENST00000359836.5:c.3502+2T>C	ENSP00000352894.1:n.3502+2T>C
ENST00000361471.8:c.1678+2T>C	ENSP00000354464.4:n.1678+2T>C
ENST00000378677.6:c.10909+2T>C	ENSP00000367948.2:n.10909+2T>C
ENST00000378680.6:c.1387+2T>C	ENSP00000367951.2:n.1387+2T>C
ENST00000378702.8:c.1717+2T>C	ENSP00000367974.4:n.1717+2T>C
ENST00000378707.7:c.3541+2T>C	ENSP00000367979.3:n.3541+2T>C
ENST00000378723.7:c.1717+2T>C	ENSP00000367997.3:n.1717+2T>C
ENST00000474231.5:c.3541+2T>C	ENSP00000417123.1:n.3541+2T>C
ENST00000481143.2:n.114+23154T>C
ENST00000541735.5:c.3211+2T>C	ENSP00000444119.1:n.3211+2T>C
ENST00000619831.4:c.10906+2T>C	ENSP00000479270.1:n.10906+2T>C
ENST00000619831.5:c.6889+2T>C	ENSP00000479270.2:n.6889+2T>C
ENST00000620040.4:c.10918+2T>C	ENSP00000478150.1:n.10918+2T>C
ENST00000620040.5:c.3335+1029T>C	ENSP00000478150.2:n.3335+1029T>C
ENST00000679437.1:c.583+2T>C	ENSP00000506629.1:n.583+2T>C
ENST00000679641.1:c.*593+2T>C	ENSP00000506135.1:n.*593+2T>C
ENST00000679706.1:c.548+2T>C
ENST00000679850.1:n.5932+2T>C
ENST00000680162.1:c.1594+2T>C	ENSP00000506634.1:n.1594+2T>C
ENST00000680162.2:c.1612+2T>C	ENSP00000506634.2:n.1612+2T>C
ENST00000680355.1:c.1387+2T>C	ENSP00000506257.1:n.1387+2T>C
ENST00000680557.1:c.604-12095T>C	ENSP00000505164.1:n.604-12095T>C
ENST00000680701.1:n.696+2T>C
ENST00000680768.1:c.1621+2T>C	ENSP00000506359.1:n.1621+2T>C
ENST00000680768.2:c.1618+2T>C	ENSP00000506359.2:n.1618+2T>C
ENST00000680961.1:c.*884+2T>C	ENSP00000506386.1:n.*884+2T>C
ENST00000681026.1:c.583+2T>C	ENSP00000506689.1:n.583+2T>C
ENST00000681153.1:c.1678+2T>C	ENSP00000505124.1:n.1678+2T>C
ENST00000681989.1:n.1719+2T>C
ENST00000682207.1:n.1041+2T>C
ENST00000682238.1:c.3211+2T>C	ENSP00000508124.1:n.3211+2T>C
ENST00000682322.1:c.1612+2T>C	ENSP00000507690.1:n.1612+2T>C
ENST00000682600.1:c.1678+2T>C	ENSP00000507640.1:n.1678+2T>C
ENST00000682746.1:n.311+2T>C
ENST00000682769.1:n.1513+2T>C
ENST00000683503.1:n.2736+2T>C
ENST00000683509.1:n.2399+2T>C
ENST00000683675.1:n.2020+2T>C
ENST00000683709.1:n.2400+2T>C
ENST00000683995.1:n.1066+2T>C
ENST00000684072.1:n.1150+2T>C
ENST00000684103.1:n.1329+2T>C
ENST00000684130.1:c.3502+2T>C	ENSP00000508037.1:n.3502+2T>C
ENST00000684247.1:n.393+2T>C
ENST00000684342.1:n.1965+2T>C
ENST00000684350.1:n.2736+2T>C
XM_006724468.2:c.10921+2T>C	XP_006724531.1:n.10921+2T>C
XM_006724469.2:c.10897+2T>C	XP_006724532.1:n.10897+2T>C
XM_006724469.3:c.10897+2T>C	XP_006724532.1:n.10897+2T>C
XM_006724470.2:c.10882+2T>C	XP_006724533.1:n.10882+2T>C
XM_006724470.3:c.10882+2T>C	XP_006724533.1:n.10882+2T>C
XM_006724471.2:c.10816+2T>C	XP_006724534.1:n.10816+2T>C
XM_006724472.2:c.10792+2T>C	XP_006724535.1:n.10792+2T>C
XM_006724473.2:c.10783+2T>C	XP_006724536.1:n.10783+2T>C
XM_006724474.2:c.10591+2T>C	XP_006724537.1:n.10591+2T>C
XM_006724474.3:c.10591+2T>C	XP_006724537.1:n.10591+2T>C
XM_006724475.2:c.10591+2T>C	XP_006724538.1:n.10591+2T>C
XM_011545467.1:c.10798+2T>C	XP_011543769.1:n.10798+2T>C
XM_017029328.1:c.10882+2T>C	XP_016884817.1:n.10882+2T>C
XM_017029331.1:c.5095+2T>C	XP_016884820.1:n.5095+2T>C