Canonical Allele Identifier: CA16621359
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 419101
ClinVar RCV Id: RCV000480017
dbSNP Id: rs1064793644
MyVariant Identifiers: chrX:g.31227807_31227808del (hg19) chrX:g.31209690_31209691del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31209690_31209691del , CM000685.2:g.31209690_31209691del GRCh38
NC_000023.10:g.31227807_31227808del , CM000685.1:g.31227807_31227808del GRCh37
NC_000023.9:g.31137728_31137729del NCBI36
NG_012232.1:g.2134919_2134920del , LRG_199:g.2134919_2134920del

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.4216_4217del ENSP00000350765.3:p.Leu1406GlufsTer7
ENST00000680162.2:c.166_167del ENSP00000506634.2:p.Leu56GlufsTer7
ENST00000680768.2:c.166_167del ENSP00000506359.2:p.Leu56GlufsTer7
ENST00000681989.1:n.168_169del
ENST00000682238.1:c.1990_1991del ENSP00000508124.1:p.Leu664GlufsTer7
ENST00000682322.1:c.166_167del ENSP00000507690.1:p.Leu56GlufsTer7
ENST00000682600.1:c.166_167del ENSP00000507640.1:p.Leu56GlufsTer7
ENST00000682769.1:n.168_169del
ENST00000683509.1:n.887_888del
ENST00000683675.1:n.469_470del
ENST00000683709.1:n.888_889del
ENST00000683957.1:n.2862_2863del
ENST00000684130.1:c.1990_1991del ENSP00000508037.1:p.Leu664GlufsTer7
ENST00000343523.7:c.1225_1226del ENSP00000340057.4:p.Leu409GlufsTer7
ENST00000357033.9:c.9370_9371del MANE Select ENSP00000354923.3:p.Leu3124GlufsTer7
ENST00000619831.5:c.5338_5339del ENSP00000479270.2:p.Leu1780GlufsTer7
ENST00000620040.5:c.1990_1991del ENSP00000478150.2:p.Leu664GlufsTer7
ENST00000679641.1:c.166_167del ENSP00000506135.1:p.Leu56GlufsTer7
ENST00000680162.1:c.43_44del ENSP00000506634.1:p.Leu15GlufsTer7
ENST00000680355.1:c.166_167del ENSP00000506257.1:p.Leu56GlufsTer7
ENST00000680557.1:c.166_167del ENSP00000505164.1:p.Leu56GlufsTer7
ENST00000680768.1:c.109_110del ENSP00000506359.1:p.Leu37GlufsTer7
ENST00000680961.1:c.1990_1991del ENSP00000506386.1:p.Leu664GlufsTer7
ENST00000681153.1:c.166_167del ENSP00000505124.1:p.Leu56GlufsTer7
ENST00000681334.1:c.166_167del ENSP00000506066.1:p.Leu56GlufsTer7
ENST00000681654.1:n.300_301del
ENST00000343523.6:c.1183_1184del ENSP00000340057.3:p.Leu395GlufsTer7
ENST00000357033.8:c.9370_9371del ENSP00000354923.3:p.Leu3124GlufsTer7
ENST00000358062.6:c.2458_2459del ENSP00000350765.2:p.Leu820GlufsTer7
ENST00000359836.5:c.1990_1991del ENSP00000352894.1:p.Leu664GlufsTer7
ENST00000361471.8:c.166_167del ENSP00000354464.4:p.Leu56GlufsTer7
ENST00000378677.6:c.9358_9359del ENSP00000367948.2:p.Leu3120GlufsTer7
ENST00000378680.6:c.166_167del ENSP00000367951.2:p.Leu56GlufsTer7
ENST00000378702.8:c.166_167del ENSP00000367974.4:p.Leu56GlufsTer7
ENST00000378707.7:c.1990_1991del ENSP00000367979.3:p.Leu664GlufsTer7
ENST00000378723.7:c.166_167del ENSP00000367997.3:p.Leu56GlufsTer7
ENST00000469142.1:n.389_390del
ENST00000474231.5:c.1990_1991del ENSP00000417123.1:p.Leu664GlufsTer7
ENST00000541735.5:c.1990_1991del ENSP00000444119.1:p.Leu664GlufsTer7
ENST00000619831.4:c.9355_9356del ENSP00000479270.1:p.Leu3119GlufsTer7
ENST00000620040.4:c.9367_9368del ENSP00000478150.1:p.Leu3123GlufsTer7
NM_000109.3:c.9346_9347del NP_000100.2:p.Leu3116GlufsTer7
NM_004006.2:c.9370_9371del , LRG_199t1:c.9370_9371del NP_003997.1:p.Leu3124GlufsTer7
NM_004009.3:c.9358_9359del NP_004000.1:p.Leu3120GlufsTer7
NM_004010.3:c.9001_9002del NP_004001.1:p.Leu3001GlufsTer7
NM_004011.3:c.5347_5348del NP_004002.2:p.Leu1783GlufsTer7
NM_004012.3:c.5338_5339del NP_004003.1:p.Leu1780GlufsTer7
NM_004013.2:c.1990_1991del NP_004004.1:p.Leu664GlufsTer7
NM_004014.2:c.1183_1184del NP_004005.1:p.Leu395GlufsTer7
NM_004015.2:c.166_167del NP_004006.1:p.Leu56GlufsTer7
NM_004016.2:c.166_167del NP_004007.1:p.Leu56GlufsTer7
NM_004017.2:c.166_167del NP_004008.1:p.Leu56GlufsTer7
NM_004018.2:c.166_167del NP_004009.1:p.Leu56GlufsTer7
NM_004019.2:c.166_167del NP_004010.1:p.Leu56GlufsTer7
NM_004020.3:c.1990_1991del NP_004011.2:p.Leu664GlufsTer7
NM_004021.2:c.1990_1991del NP_004012.1:p.Leu664GlufsTer7
NM_004022.2:c.1990_1991del NP_004013.1:p.Leu664GlufsTer7
NM_004023.2:c.1990_1991del NP_004014.1:p.Leu664GlufsTer7
XM_006724468.2:c.9370_9371del XP_006724531.1:p.Leu3124GlufsTer7
XM_006724469.2:c.9346_9347del XP_006724532.1:p.Leu3116GlufsTer7
XM_006724470.2:c.9370_9371del XP_006724533.1:p.Leu3124GlufsTer7
XM_006724471.2:c.9370_9371del XP_006724534.1:p.Leu3124GlufsTer7
XM_006724472.2:c.9241_9242del XP_006724535.1:p.Leu3081GlufsTer7
XM_006724473.2:c.9232_9233del XP_006724536.1:p.Leu3078GlufsTer7
XM_006724474.2:c.9370_9371del XP_006724537.1:p.Leu3124GlufsTer7
XM_006724475.2:c.9370_9371del XP_006724538.1:p.Leu3124GlufsTer7
XM_011545467.1:c.9247_9248del XP_011543769.1:p.Leu3083GlufsTer7
XM_011545468.1:c.9370_9371del XP_011543770.1:p.Leu3124GlufsTer7
XM_006724469.3:c.9346_9347del XP_006724532.1:p.Leu3116GlufsTer7
XM_006724470.3:c.9370_9371del XP_006724533.1:p.Leu3124GlufsTer7
XM_006724474.3:c.9370_9371del XP_006724537.1:p.Leu3124GlufsTer7
XM_011545468.2:c.9370_9371del XP_011543770.1:p.Leu3124GlufsTer7
XM_017029328.1:c.9370_9371del XP_016884817.1:p.Leu3124GlufsTer7
XM_017029331.1:c.3544_3545del XP_016884820.1:p.Leu1182GlufsTer7
NM_000109.4:c.9346_9347del NP_000100.3:p.Leu3116GlufsTer7
NM_004006.3:c.9370_9371del MANE Select NP_003997.2:p.Leu3124GlufsTer7
NM_004011.4:c.5347_5348del NP_004002.3:p.Leu1783GlufsTer7
NM_004012.4:c.5338_5339del NP_004003.2:p.Leu1780GlufsTer7
NM_004015.3:c.166_167del NP_004006.1:p.Leu56GlufsTer7
NM_004016.3:c.166_167del NP_004007.1:p.Leu56GlufsTer7
NM_004017.3:c.166_167del NP_004008.1:p.Leu56GlufsTer7
NM_004018.3:c.166_167del NP_004009.1:p.Leu56GlufsTer7
NM_004019.3:c.166_167del NP_004010.1:p.Leu56GlufsTer7
NM_004021.3:c.1990_1991del NP_004012.2:p.Leu664GlufsTer7
NM_004023.3:c.1990_1991del NP_004014.2:p.Leu664GlufsTer7
NM_004013.3:c.1990_1991del NP_004004.2:p.Leu664GlufsTer7
NM_004014.3:c.1183_1184del NP_004005.2:p.Leu395GlufsTer7
NM_004020.4:c.1990_1991del NP_004011.3:p.Leu664GlufsTer7
NM_004022.3:c.1990_1991del NP_004013.2:p.Leu664GlufsTer7
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