Canonical Allele Identifier: CA2422434010
Gene: DMD HGNC NCBI

Linked Data

dbSNP Id: rs2065143097

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31444460_31444462del , CM000685.2:g.31444460_31444462del GRCh38
NC_000023.10:g.31462577_31462579del , CM000685.1:g.31462577_31462579del GRCh37
NC_000023.9:g.31372498_31372500del NCBI36
NG_012232.1:g.1900152_1900154del , LRG_199:g.1900152_1900154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.3930+23_3930+25del ENSP00000350765.3:n.3930+23_3930+25del
ENST00000682238.1:c.1704+23_1704+25del ENSP00000508124.1:n.1704+23_1704+25del
ENST00000683450.1:n.2572_2574del
ENST00000683957.1:n.2576+23_2576+25del
ENST00000684130.1:c.1704+23_1704+25del ENSP00000508037.1:n.1704+23_1704+25del
ENST00000343523.7:c.939+23_939+25del ENSP00000340057.4:n.939+23_939+25del
ENST00000357033.9:c.9084+23_9084+25del MANE Select ENSP00000354923.3:n.9084+23_9084+25del
ENST00000619831.5:c.5052+23_5052+25del ENSP00000479270.2:n.5052+23_5052+25del
ENST00000620040.5:c.1704+23_1704+25del ENSP00000478150.2:n.1704+23_1704+25del
ENST00000680961.1:c.1704+23_1704+25del ENSP00000506386.1:n.1704+23_1704+25del
ENST00000681646.1:n.2745+23_2745+25del
ENST00000343523.6:c.897+23_897+25del ENSP00000340057.3:n.897+23_897+25del
ENST00000357033.8:c.9084+23_9084+25del ENSP00000354923.3:n.9084+23_9084+25del
ENST00000358062.6:c.2172+23_2172+25del ENSP00000350765.2:n.2172+23_2172+25del
ENST00000359836.5:c.1704+23_1704+25del ENSP00000352894.1:n.1704+23_1704+25del
ENST00000378677.6:c.9072+23_9072+25del ENSP00000367948.2:n.9072+23_9072+25del
ENST00000378707.7:c.1704+23_1704+25del ENSP00000367979.3:n.1704+23_1704+25del
ENST00000474231.5:c.1704+23_1704+25del ENSP00000417123.1:n.1704+23_1704+25del
ENST00000541735.5:c.1704+23_1704+25del ENSP00000444119.1:n.1704+23_1704+25del
ENST00000619831.4:c.9069+23_9069+25del ENSP00000479270.1:n.9069+23_9069+25del
ENST00000620040.4:c.9081+23_9081+25del ENSP00000478150.1:n.9081+23_9081+25del
NM_000109.3:c.9060+23_9060+25del NP_000100.2:n.9060+23_9060+25del
NM_004006.2:c.9084+23_9084+25del , LRG_199t1:c.9084+23_9084+25del NP_003997.1:n.9084+23_9084+25del
NM_004009.3:c.9072+23_9072+25del NP_004000.1:n.9072+23_9072+25del
NM_004010.3:c.8715+23_8715+25del NP_004001.1:n.8715+23_8715+25del
NM_004011.3:c.5061+23_5061+25del NP_004002.2:n.5061+23_5061+25del
NM_004012.3:c.5052+23_5052+25del NP_004003.1:n.5052+23_5052+25del
NM_004013.2:c.1704+23_1704+25del NP_004004.1:n.1704+23_1704+25del
NM_004014.2:c.897+23_897+25del NP_004005.1:n.897+23_897+25del
NM_004020.3:c.1704+23_1704+25del NP_004011.2:n.1704+23_1704+25del
NM_004021.2:c.1704+23_1704+25del NP_004012.1:n.1704+23_1704+25del
NM_004022.2:c.1704+23_1704+25del NP_004013.1:n.1704+23_1704+25del
NM_004023.2:c.1704+23_1704+25del NP_004014.1:n.1704+23_1704+25del
XM_006724468.2:c.9084+23_9084+25del XP_006724531.1:n.9084+23_9084+25del
XM_006724469.2:c.9060+23_9060+25del XP_006724532.1:n.9060+23_9060+25del
XM_006724470.2:c.9084+23_9084+25del XP_006724533.1:n.9084+23_9084+25del
XM_006724471.2:c.9084+23_9084+25del XP_006724534.1:n.9084+23_9084+25del
XM_006724472.2:c.8955+23_8955+25del XP_006724535.1:n.8955+23_8955+25del
XM_006724473.2:c.8946+23_8946+25del XP_006724536.1:n.8946+23_8946+25del
XM_006724474.2:c.9084+23_9084+25del XP_006724537.1:n.9084+23_9084+25del
XM_006724475.2:c.9084+23_9084+25del XP_006724538.1:n.9084+23_9084+25del
XM_011545467.1:c.8961+23_8961+25del XP_011543769.1:n.8961+23_8961+25del
XM_011545468.1:c.9084+23_9084+25del XP_011543770.1:n.9084+23_9084+25del
XM_006724469.3:c.9060+23_9060+25del XP_006724532.1:n.9060+23_9060+25del
XM_006724470.3:c.9084+23_9084+25del XP_006724533.1:n.9084+23_9084+25del
XM_006724474.3:c.9084+23_9084+25del XP_006724537.1:n.9084+23_9084+25del
XM_011545468.2:c.9084+23_9084+25del XP_011543770.1:n.9084+23_9084+25del
XM_017029328.1:c.9084+23_9084+25del XP_016884817.1:n.9084+23_9084+25del
XM_017029331.1:c.3258+23_3258+25del XP_016884820.1:n.3258+23_3258+25del
NM_000109.4:c.9060+23_9060+25del NP_000100.3:n.9060+23_9060+25del
NM_004006.3:c.9084+23_9084+25del MANE Select NP_003997.2:n.9084+23_9084+25del
NM_004011.4:c.5061+23_5061+25del NP_004002.3:n.5061+23_5061+25del
NM_004012.4:c.5052+23_5052+25del NP_004003.2:n.5052+23_5052+25del
NM_004021.3:c.1704+23_1704+25del NP_004012.2:n.1704+23_1704+25del
NM_004023.3:c.1704+23_1704+25del NP_004014.2:n.1704+23_1704+25del
NM_004013.3:c.1704+23_1704+25del NP_004004.2:n.1704+23_1704+25del
NM_004014.3:c.897+23_897+25del NP_004005.2:n.897+23_897+25del
NM_004020.4:c.1704+23_1704+25del NP_004011.3:n.1704+23_1704+25del
NM_004022.3:c.1704+23_1704+25del NP_004013.2:n.1704+23_1704+25del