Canonical Allele Identifier: CA2579580145
Community Standard Title: NM_004006.3(DMD):c.1722del (p.Trp574CysfsTer9)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32573621del , CM000685.2:g.32573621del GRCh38
NC_000023.10:g.32591738del , CM000685.1:g.32591738del GRCh37
NC_000023.9:g.32501659del NCBI36
NG_012232.1:g.770990del , LRG_199:g.770990del

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.1722del MANE Select NP_003997.2:p.Trp574CysfsTer9
ENST00000357033.9:c.1722del MANE Select ENSP00000354923.3:p.Trp574CysfsTer9
NM_000109.3:c.1698del NP_000100.2:p.Trp566CysfsTer9
NM_000109.4:c.1698del NP_000100.3:p.Trp566CysfsTer9
NM_004006.2:c.1722del , LRG_199t1:c.1722del NP_003997.1:p.Trp574CysfsTer9
NM_004009.3:c.1710del NP_004000.1:p.Trp570CysfsTer9
NM_004010.3:c.1353del NP_004001.1:p.Trp451CysfsTer9
ENST00000288447.8:c.1698del ENSP00000288447.4:p.Trp566CysfsTer9
ENST00000288447.9:c.1698del ENSP00000288447.4:p.Trp566CysfsTer9
ENST00000357033.8:c.1722del ENSP00000354923.3:p.Trp574CysfsTer9
ENST00000378677.6:c.1710del ENSP00000367948.2:p.Trp570CysfsTer9
ENST00000420596.5:c.94-208421del ENSP00000399897.1:n.94-208421del
ENST00000447523.1:c.366del ENSP00000395904.1:p.Trp122CysfsTer?
ENST00000448370.5:c.94-208910del ENSP00000388559.1:n.94-208910del
ENST00000480751.1:n.206del
ENST00000488902.5:n.336-356557del
ENST00000619831.4:c.1710del ENSP00000479270.1:p.Trp570CysfsTer9
ENST00000620040.4:c.1722del ENSP00000478150.1:p.Trp574CysfsTer9
ENST00000682071.1:c.1353del ENSP00000508133.1:p.Trp451CysfsTer9
ENST00000682899.1:n.1929del
ENST00000682924.1:c.*221del ENSP00000508187.1:n.*221del
ENST00000683985.1:n.1929del
ENST00000684165.1:n.1929del
ENST00000684292.1:n.1929del
XM_006724468.2:c.1722del XP_006724531.1:p.Trp574CysfsTer9
XM_006724469.2:c.1698del XP_006724532.1:p.Trp566CysfsTer9
XM_006724469.3:c.1698del XP_006724532.1:p.Trp566CysfsTer9
XM_006724470.2:c.1722del XP_006724533.1:p.Trp574CysfsTer9
XM_006724470.3:c.1722del XP_006724533.1:p.Trp574CysfsTer9
XM_006724471.2:c.1722del XP_006724534.1:p.Trp574CysfsTer9
XM_006724472.2:c.1593del XP_006724535.1:p.Trp531CysfsTer9
XM_006724473.2:c.1722del XP_006724536.1:p.Trp574CysfsTer9
XM_006724474.2:c.1722del XP_006724537.1:p.Trp574CysfsTer9
XM_006724474.3:c.1722del XP_006724537.1:p.Trp574CysfsTer9
XM_006724475.2:c.1722del XP_006724538.1:p.Trp574CysfsTer9
XM_011545467.1:c.1722del XP_011543769.1:p.Trp574CysfsTer9
XM_011545468.1:c.1722del XP_011543770.1:p.Trp574CysfsTer9
XM_011545468.2:c.1722del XP_011543770.1:p.Trp574CysfsTer9
XM_011545469.1:c.1722del XP_011543771.1:p.Trp574CysfsTer9
XM_017029328.1:c.1722del XP_016884817.1:p.Trp574CysfsTer9
XM_017029329.1:c.1722del XP_016884818.1:p.Trp574CysfsTer9
XM_017029330.2:c.1722del XP_016884819.1:p.Trp574CysfsTer9