Canonical Allele Identifier: CA2422368494
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31260999_31261003delinsGTTGT , CM000685.2:g.31260999_31261003delinsGTTGT GRCh38
NC_000023.10:g.31279116_31279120delinsGTTGT , CM000685.1:g.31279116_31279120delinsGTTGT GRCh37
NC_000023.9:g.31189037_31189041delinsGTTGT NCBI36
NG_012232.1:g.2083607_2083611delinsACAAC , LRG_199:g.2083607_2083611delinsACAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.4084_4088delinsACAAC ENSP00000350765.3:p.Thr1362=
ENST00000680162.2:c.34_38delinsACAAC ENSP00000506634.2:p.Thr12=
ENST00000680768.2:c.34_38delinsACAAC ENSP00000506359.2:p.Thr12=
ENST00000682238.1:c.1858_1862delinsACAAC ENSP00000508124.1:p.Thr620=
ENST00000682322.1:c.34_38delinsACAAC ENSP00000507690.1:p.Thr12=
ENST00000682600.1:c.34_38delinsACAAC ENSP00000507640.1:p.Thr12=
ENST00000683509.1:n.755_759delinsACAAC
ENST00000683675.1:n.337_341delinsACAAC
ENST00000683709.1:n.756_760delinsACAAC
ENST00000683957.1:n.2730_2734delinsACAAC
ENST00000684130.1:c.1858_1862delinsACAAC ENSP00000508037.1:p.Thr620=
ENST00000343523.7:c.1093_1097delinsACAAC ENSP00000340057.4:p.Thr365=
ENST00000357033.9:c.9238_9242delinsACAAC MANE Select ENSP00000354923.3:p.Thr3080=
ENST00000619831.5:c.5206_5210delinsACAAC ENSP00000479270.2:p.Thr1736=
ENST00000620040.5:c.1858_1862delinsACAAC ENSP00000478150.2:p.Thr620=
ENST00000679641.1:c.34_38delinsACAAC ENSP00000506135.1:p.Thr12=
ENST00000680216.1:c.14_18delinsACAAC
ENST00000680355.1:c.34_38delinsACAAC ENSP00000506257.1:p.Thr12=
ENST00000680557.1:c.34_38delinsACAAC ENSP00000505164.1:p.Thr12=
ENST00000680768.1:c.-24_-20delinsACAAC ENSP00000506359.1:n.-24_-20delinsACAAC
ENST00000680961.1:c.1858_1862delinsACAAC ENSP00000506386.1:p.Thr620=
ENST00000681153.1:c.34_38delinsACAAC ENSP00000505124.1:p.Thr12=
ENST00000681334.1:c.34_38delinsACAAC ENSP00000506066.1:p.Thr12=
ENST00000681646.1:n.2899_2903delinsACAAC
ENST00000681654.1:n.168_172delinsACAAC
ENST00000681870.1:c.34_38delinsACAAC ENSP00000506709.1:p.Thr12=
ENST00000343523.6:c.1051_1055delinsACAAC ENSP00000340057.3:p.Thr351=
ENST00000357033.8:c.9238_9242delinsACAAC ENSP00000354923.3:p.Thr3080=
ENST00000358062.6:c.2326_2330delinsACAAC ENSP00000350765.2:p.Thr776=
ENST00000359836.5:c.1858_1862delinsACAAC ENSP00000352894.1:p.Thr620=
ENST00000361471.8:c.34_38delinsACAAC ENSP00000354464.4:p.Thr12=
ENST00000378677.6:c.9226_9230delinsACAAC ENSP00000367948.2:p.Thr3076=
ENST00000378680.6:c.34_38delinsACAAC ENSP00000367951.2:p.Thr12=
ENST00000378702.8:c.34_38delinsACAAC ENSP00000367974.4:p.Thr12=
ENST00000378707.7:c.1858_1862delinsACAAC ENSP00000367979.3:p.Thr620=
ENST00000378723.7:c.34_38delinsACAAC ENSP00000367997.3:p.Thr12=
ENST00000469142.1:n.257_261delinsACAAC
ENST00000474231.5:c.1858_1862delinsACAAC ENSP00000417123.1:p.Thr620=
ENST00000541735.5:c.1858_1862delinsACAAC ENSP00000444119.1:p.Thr620=
ENST00000619831.4:c.9223_9227delinsACAAC ENSP00000479270.1:p.Thr3075=
ENST00000620040.4:c.9235_9239delinsACAAC ENSP00000478150.1:p.Thr3079=
NM_000109.3:c.9214_9218delinsACAAC NP_000100.2:p.Thr3072=
NM_004006.2:c.9238_9242delinsACAAC , LRG_199t1:c.9238_9242delinsACAAC NP_003997.1:p.Thr3080=
NM_004009.3:c.9226_9230delinsACAAC NP_004000.1:p.Thr3076=
NM_004010.3:c.8869_8873delinsACAAC NP_004001.1:p.Thr2957=
NM_004011.3:c.5215_5219delinsACAAC NP_004002.2:p.Thr1739=
NM_004012.3:c.5206_5210delinsACAAC NP_004003.1:p.Thr1736=
NM_004013.2:c.1858_1862delinsACAAC NP_004004.1:p.Thr620=
NM_004014.2:c.1051_1055delinsACAAC NP_004005.1:p.Thr351=
NM_004015.2:c.34_38delinsACAAC NP_004006.1:p.Thr12=
NM_004016.2:c.34_38delinsACAAC NP_004007.1:p.Thr12=
NM_004017.2:c.34_38delinsACAAC NP_004008.1:p.Thr12=
NM_004018.2:c.34_38delinsACAAC NP_004009.1:p.Thr12=
NM_004019.2:c.34_38delinsACAAC NP_004010.1:p.Thr12=
NM_004020.3:c.1858_1862delinsACAAC NP_004011.2:p.Thr620=
NM_004021.2:c.1858_1862delinsACAAC NP_004012.1:p.Thr620=
NM_004022.2:c.1858_1862delinsACAAC NP_004013.1:p.Thr620=
NM_004023.2:c.1858_1862delinsACAAC NP_004014.1:p.Thr620=
XM_006724468.2:c.9238_9242delinsACAAC XP_006724531.1:p.Thr3080=
XM_006724469.2:c.9214_9218delinsACAAC XP_006724532.1:p.Thr3072=
XM_006724470.2:c.9238_9242delinsACAAC XP_006724533.1:p.Thr3080=
XM_006724471.2:c.9238_9242delinsACAAC XP_006724534.1:p.Thr3080=
XM_006724472.2:c.9109_9113delinsACAAC XP_006724535.1:p.Thr3037=
XM_006724473.2:c.9100_9104delinsACAAC XP_006724536.1:p.Thr3034=
XM_006724474.2:c.9238_9242delinsACAAC XP_006724537.1:p.Thr3080=
XM_006724475.2:c.9238_9242delinsACAAC XP_006724538.1:p.Thr3080=
XM_011545467.1:c.9115_9119delinsACAAC XP_011543769.1:p.Thr3039=
XM_011545468.1:c.9238_9242delinsACAAC XP_011543770.1:p.Thr3080=
XM_006724469.3:c.9214_9218delinsACAAC XP_006724532.1:p.Thr3072=
XM_006724470.3:c.9238_9242delinsACAAC XP_006724533.1:p.Thr3080=
XM_006724474.3:c.9238_9242delinsACAAC XP_006724537.1:p.Thr3080=
XM_011545468.2:c.9238_9242delinsACAAC XP_011543770.1:p.Thr3080=
XM_017029328.1:c.9238_9242delinsACAAC XP_016884817.1:p.Thr3080=
XM_017029331.1:c.3412_3416delinsACAAC XP_016884820.1:p.Thr1138=
NM_000109.4:c.9214_9218delinsACAAC NP_000100.3:p.Thr3072=
NM_004006.3:c.9238_9242delinsACAAC MANE Select NP_003997.2:p.Thr3080=
NM_004011.4:c.5215_5219delinsACAAC NP_004002.3:p.Thr1739=
NM_004012.4:c.5206_5210delinsACAAC NP_004003.2:p.Thr1736=
NM_004015.3:c.34_38delinsACAAC NP_004006.1:p.Thr12=
NM_004016.3:c.34_38delinsACAAC NP_004007.1:p.Thr12=
NM_004017.3:c.34_38delinsACAAC NP_004008.1:p.Thr12=
NM_004018.3:c.34_38delinsACAAC NP_004009.1:p.Thr12=
NM_004019.3:c.34_38delinsACAAC NP_004010.1:p.Thr12=
NM_004021.3:c.1858_1862delinsACAAC NP_004012.2:p.Thr620=
NM_004023.3:c.1858_1862delinsACAAC NP_004014.2:p.Thr620=
NM_004013.3:c.1858_1862delinsACAAC NP_004004.2:p.Thr620=
NM_004014.3:c.1051_1055delinsACAAC NP_004005.2:p.Thr351=
NM_004020.4:c.1858_1862delinsACAAC NP_004011.3:p.Thr620=
NM_004022.3:c.1858_1862delinsACAAC NP_004013.2:p.Thr620=