Canonical Allele Identifier: CA267162
Community Standard Title: NM_004006.3(DMD):c.8374_8375del (p.Lys2792ValfsTer5)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31507299_31507300del , CM000685.2:g.31507299_31507300del GRCh38
NC_000023.10:g.31525416_31525417del , CM000685.1:g.31525416_31525417del GRCh37
NC_000023.9:g.31435337_31435338del NCBI36
NG_012232.1:g.1837313_1837314del , LRG_199:g.1837313_1837314del

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8374_8375del MANE Select NP_003997.2:p.Lys2792ValfsTer5
ENST00000357033.9:c.8374_8375del MANE Select ENSP00000354923.3:p.Lys2792ValfsTer5
NM_000109.3:c.8350_8351del NP_000100.2:p.Lys2784ValfsTer5
NM_000109.4:c.8350_8351del NP_000100.3:p.Lys2784ValfsTer5
NM_004006.2:c.8374_8375del , LRG_199t1:c.8374_8375del NP_003997.1:p.Lys2792ValfsTer5
NM_004009.3:c.8362_8363del NP_004000.1:p.Lys2788ValfsTer5
NM_004010.3:c.8005_8006del NP_004001.1:p.Lys2669ValfsTer5
NM_004011.3:c.4351_4352del NP_004002.2:p.Lys1451ValfsTer5
NM_004011.4:c.4351_4352del NP_004002.3:p.Lys1451ValfsTer5
NM_004012.3:c.4342_4343del NP_004003.1:p.Lys1448ValfsTer5
NM_004012.4:c.4342_4343del NP_004003.2:p.Lys1448ValfsTer5
NM_004013.2:c.994_995del NP_004004.1:p.Lys332ValfsTer5
NM_004013.3:c.994_995del NP_004004.2:p.Lys332ValfsTer5
NM_004014.2:c.187_188del NP_004005.1:p.Lys63ValfsTer5
NM_004014.3:c.187_188del NP_004005.2:p.Lys63ValfsTer5
NM_004020.3:c.994_995del NP_004011.2:p.Lys332ValfsTer5
NM_004020.4:c.994_995del NP_004011.3:p.Lys332ValfsTer5
NM_004021.2:c.994_995del NP_004012.1:p.Lys332ValfsTer5
NM_004021.3:c.994_995del NP_004012.2:p.Lys332ValfsTer5
NM_004022.2:c.994_995del NP_004013.1:p.Lys332ValfsTer5
NM_004022.3:c.994_995del NP_004013.2:p.Lys332ValfsTer5
NM_004023.2:c.994_995del NP_004014.1:p.Lys332ValfsTer5
NM_004023.3:c.994_995del NP_004014.2:p.Lys332ValfsTer5
ENST00000343523.6:c.187_188del ENSP00000340057.3:p.Lys63ValfsTer5
ENST00000343523.7:c.229_230del ENSP00000340057.4:p.Lys77ValfsTer5
ENST00000357033.8:c.8374_8375del ENSP00000354923.3:p.Lys2792ValfsTer5
ENST00000358062.6:c.1462_1463del ENSP00000350765.2:p.Lys488ValfsTer5
ENST00000358062.7:c.3220_3221del ENSP00000350765.3:p.Lys1074ValfsTer5
ENST00000359836.5:c.994_995del ENSP00000352894.1:p.Lys332ValfsTer5
ENST00000378677.6:c.8362_8363del ENSP00000367948.2:p.Lys2788ValfsTer5
ENST00000378707.7:c.994_995del ENSP00000367979.3:p.Lys332ValfsTer5
ENST00000445312.1:n.431_432del
ENST00000474231.5:c.994_995del ENSP00000417123.1:p.Lys332ValfsTer5
ENST00000541735.5:c.994_995del ENSP00000444119.1:p.Lys332ValfsTer5
ENST00000619831.4:c.8359_8360del ENSP00000479270.1:p.Lys2787ValfsTer5
ENST00000619831.5:c.4342_4343del ENSP00000479270.2:p.Lys1448ValfsTer5
ENST00000620040.4:c.8371_8372del ENSP00000478150.1:p.Lys2791ValfsTer5
ENST00000620040.5:c.994_995del ENSP00000478150.2:p.Lys332ValfsTer5
ENST00000680961.1:c.994_995del ENSP00000506386.1:p.Lys332ValfsTer5
ENST00000681646.1:n.2035_2036del
ENST00000682238.1:c.994_995del ENSP00000508124.1:p.Lys332ValfsTer5
ENST00000683450.1:n.1839_1840del
ENST00000683957.1:n.1866_1867del
ENST00000684130.1:c.994_995del ENSP00000508037.1:p.Lys332ValfsTer5
XM_006724468.2:c.8374_8375del XP_006724531.1:p.Lys2792ValfsTer5
XM_006724469.2:c.8350_8351del XP_006724532.1:p.Lys2784ValfsTer5
XM_006724469.3:c.8350_8351del XP_006724532.1:p.Lys2784ValfsTer5
XM_006724470.2:c.8374_8375del XP_006724533.1:p.Lys2792ValfsTer5
XM_006724470.3:c.8374_8375del XP_006724533.1:p.Lys2792ValfsTer5
XM_006724471.2:c.8374_8375del XP_006724534.1:p.Lys2792ValfsTer5
XM_006724472.2:c.8245_8246del XP_006724535.1:p.Lys2749ValfsTer5
XM_006724473.2:c.8236_8237del XP_006724536.1:p.Lys2746ValfsTer5
XM_006724474.2:c.8374_8375del XP_006724537.1:p.Lys2792ValfsTer5
XM_006724474.3:c.8374_8375del XP_006724537.1:p.Lys2792ValfsTer5
XM_006724475.2:c.8374_8375del XP_006724538.1:p.Lys2792ValfsTer5
XM_011545467.1:c.8251_8252del XP_011543769.1:p.Lys2751ValfsTer5
XM_011545468.1:c.8374_8375del XP_011543770.1:p.Lys2792ValfsTer5
XM_011545468.2:c.8374_8375del XP_011543770.1:p.Lys2792ValfsTer5
XM_017029328.1:c.8374_8375del XP_016884817.1:p.Lys2792ValfsTer5
XM_017029331.1:c.2548_2549del XP_016884820.1:p.Lys850ValfsTer5