Canonical Allele Identifier: CA16616652
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409900
ClinVar RCV Id: RCV000475711
dbSNP Id: rs1060502630

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31169590_31169591insTT , CM000685.2:g.31169590_31169591insTT GRCh38
NC_000023.10:g.31187707_31187708insTT , CM000685.1:g.31187707_31187708insTT GRCh37
NC_000023.9:g.31097628_31097629insTT NCBI36
NG_012232.1:g.2175020_2175021insAA , LRG_199:g.2175020_2175021insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.5213_5214insAA ENSP00000350765.3:p.His1738GlnfsTer4
ENST00000680162.2:c.1097_1098insAA ENSP00000506634.2:p.His366GlnfsTer4
ENST00000680768.2:c.1163_1164insAA ENSP00000506359.2:p.His388GlnfsTer4
ENST00000681989.1:n.1204_1205insAA
ENST00000682207.1:n.526_527insAA
ENST00000682238.1:c.2843+9079_2843+9080insAA ENSP00000508124.1:n.2843+9079_2843+9080in...
ENST00000682322.1:c.1097_1098insAA ENSP00000507690.1:p.His366GlnfsTer4
ENST00000682600.1:c.1163_1164insAA ENSP00000507640.1:p.His388GlnfsTer4
ENST00000682769.1:n.998_999insAA
ENST00000683503.1:n.2221_2222insAA
ENST00000683509.1:n.1884_1885insAA
ENST00000683675.1:n.1505_1506insAA
ENST00000683709.1:n.1885_1886insAA
ENST00000683957.1:n.3859_3860insAA
ENST00000683995.1:n.551_552insAA
ENST00000684072.1:n.635_636insAA
ENST00000684130.1:c.2987_2988insAA ENSP00000508037.1:p.His996GlnfsTer4
ENST00000684342.1:n.1450_1451insAA
ENST00000684350.1:n.2221_2222insAA
ENST00000343523.7:c.2261_2262insAA ENSP00000340057.4:p.His754GlnfsTer4
ENST00000357033.9:c.10406_10407insAA MANE Select ENSP00000354923.3:p.His3469GlnfsTer4
ENST00000619831.5:c.6374_6375insAA ENSP00000479270.2:p.His2125GlnfsTer4
ENST00000620040.5:c.2987_2988insAA ENSP00000478150.2:p.His996GlnfsTer4
ENST00000679437.1:c.68_69insAA ENSP00000506629.1:p.His23GlnfsTer4
ENST00000679641.1:c.*225+9079_*225+9080insAA ENSP00000506135.1:n.*225+9079_*225+9080in...
ENST00000679706.1:c.180+9079_180+9080insAA
ENST00000679850.1:n.5417_5418insAA
ENST00000680162.1:c.1079_1080insAA ENSP00000506634.1:p.His360GlnfsTer4
ENST00000680355.1:c.1019+9079_1019+9080insAA ENSP00000506257.1:n.1019+9079_1019+9080in...
ENST00000680557.1:c.603+34371_603+34372insAA ENSP00000505164.1:n.603+34371_603+34372in...
ENST00000680701.1:n.181_182insAA
ENST00000680768.1:c.1106_1107insAA ENSP00000506359.1:p.His369GlnfsTer4
ENST00000680961.1:c.*369_*370insAA ENSP00000506386.1:n.*369_*370insAA
ENST00000681026.1:c.68_69insAA ENSP00000506689.1:p.His23GlnfsTer4
ENST00000681153.1:c.1163_1164insAA ENSP00000505124.1:p.His388GlnfsTer4
ENST00000343523.6:c.2219_2220insAA ENSP00000340057.3:p.His740GlnfsTer4
ENST00000357033.8:c.10406_10407insAA ENSP00000354923.3:p.His3469GlnfsTer4
ENST00000358062.6:c.3455_3456insAA ENSP00000350765.2:p.His1152GlnfsTer4
ENST00000359836.5:c.2987_2988insAA ENSP00000352894.1:p.His996GlnfsTer4
ENST00000361471.8:c.1163_1164insAA ENSP00000354464.4:p.His388GlnfsTer4
ENST00000378677.6:c.10394_10395insAA ENSP00000367948.2:p.His3465GlnfsTer4
ENST00000378680.6:c.1019+9079_1019+9080insAA ENSP00000367951.2:n.1019+9079_1019+9080in...
ENST00000378702.8:c.1202_1203insAA ENSP00000367974.4:p.His401GlnfsTer4
ENST00000378705.3:c.710_711insAA ENSP00000367977.3:p.His237GlnfsTer?
ENST00000378707.7:c.3026_3027insAA ENSP00000367979.3:p.His1009GlnfsTer4
ENST00000378723.7:c.1202_1203insAA ENSP00000367997.3:p.His401GlnfsTer4
ENST00000474231.5:c.3026_3027insAA ENSP00000417123.1:p.His1009GlnfsTer4
ENST00000541735.5:c.2843+9079_2843+9080insAA ENSP00000444119.1:n.2843+9079_2843+9080in...
ENST00000619831.4:c.10391_10392insAA ENSP00000479270.1:p.His3464GlnfsTer4
ENST00000620040.4:c.10403_10404insAA ENSP00000478150.1:p.His3468GlnfsTer4
NM_000109.3:c.10382_10383insAA NP_000100.2:p.His3461GlnfsTer4
NM_004006.2:c.10406_10407insAA , LRG_199t1:c.10406_10407insAA NP_003997.1:p.His3469GlnfsTer4
NM_004009.3:c.10394_10395insAA NP_004000.1:p.His3465GlnfsTer4
NM_004010.3:c.10037_10038insAA NP_004001.1:p.His3346GlnfsTer4
NM_004011.3:c.6383_6384insAA NP_004002.2:p.His2128GlnfsTer4
NM_004012.3:c.6374_6375insAA NP_004003.1:p.His2125GlnfsTer4
NM_004013.2:c.3026_3027insAA NP_004004.1:p.His1009GlnfsTer4
NM_004014.2:c.2219_2220insAA NP_004005.1:p.His740GlnfsTer4
NM_004015.2:c.1202_1203insAA NP_004006.1:p.His401GlnfsTer4
NM_004016.2:c.1202_1203insAA NP_004007.1:p.His401GlnfsTer4
NM_004017.2:c.1163_1164insAA NP_004008.1:p.His388GlnfsTer4
NM_004018.2:c.1163_1164insAA NP_004009.1:p.His388GlnfsTer4
NM_004020.3:c.2843+9079_2843+9080insAA NP_004011.2:n.2843+9079_2843+9080insAA
NM_004021.2:c.3026_3027insAA NP_004012.1:p.His1009GlnfsTer4
NM_004022.2:c.2987_2988insAA NP_004013.1:p.His996GlnfsTer4
NM_004023.2:c.2843+9079_2843+9080insAA NP_004014.1:n.2843+9079_2843+9080insAA
XM_006724468.2:c.10406_10407insAA XP_006724531.1:p.His3469GlnfsTer4
XM_006724469.2:c.10382_10383insAA XP_006724532.1:p.His3461GlnfsTer4
XM_006724470.2:c.10367_10368insAA XP_006724533.1:p.His3456GlnfsTer4
XM_006724471.2:c.10301_10302insAA XP_006724534.1:p.His3434GlnfsTer4
XM_006724472.2:c.10277_10278insAA XP_006724535.1:p.His3426GlnfsTer4
XM_006724473.2:c.10268_10269insAA XP_006724536.1:p.His3423GlnfsTer4
XM_006724474.2:c.10223+9079_10223+9080insAA XP_006724537.1:n.10223+9079_10223+9080ins...
XM_006724475.2:c.10223+9079_10223+9080insAA XP_006724538.1:n.10223+9079_10223+9080ins...
XM_011545467.1:c.10283_10284insAA XP_011543769.1:p.His3428GlnfsTer4
XM_006724469.3:c.10382_10383insAA XP_006724532.1:p.His3461GlnfsTer4
XM_006724470.3:c.10367_10368insAA XP_006724533.1:p.His3456GlnfsTer4
XM_006724474.3:c.10223+9079_10223+9080insAA XP_006724537.1:n.10223+9079_10223+9080ins...
XM_017029328.1:c.10367_10368insAA XP_016884817.1:p.His3456GlnfsTer4
XM_017029331.1:c.4580_4581insAA XP_016884820.1:p.His1527GlnfsTer4
NM_000109.4:c.10382_10383insAA NP_000100.3:p.His3461GlnfsTer4
NM_004006.3:c.10406_10407insAA MANE Select NP_003997.2:p.His3469GlnfsTer4
NM_004011.4:c.6383_6384insAA NP_004002.3:p.His2128GlnfsTer4
NM_004012.4:c.6374_6375insAA NP_004003.2:p.His2125GlnfsTer4
NM_004015.3:c.1202_1203insAA NP_004006.1:p.His401GlnfsTer4
NM_004016.3:c.1202_1203insAA NP_004007.1:p.His401GlnfsTer4
NM_004017.3:c.1163_1164insAA NP_004008.1:p.His388GlnfsTer4
NM_004018.3:c.1163_1164insAA NP_004009.1:p.His388GlnfsTer4
NM_004021.3:c.3026_3027insAA NP_004012.2:p.His1009GlnfsTer4
NM_004023.3:c.2843+9079_2843+9080insAA NP_004014.2:n.2843+9079_2843+9080insAA
NM_004013.3:c.3026_3027insAA NP_004004.2:p.His1009GlnfsTer4
NM_004014.3:c.2219_2220insAA NP_004005.2:p.His740GlnfsTer4
NM_004020.4:c.2843+9079_2843+9080insAA NP_004011.3:n.2843+9079_2843+9080insAA
NM_004022.3:c.2987_2988insAA NP_004013.2:p.His996GlnfsTer4