Canonical Allele Identifier: CA2695232080
Community Standard Title: NM_004006.3(DMD):c.1336del (p.His446IlefsTer4)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32614449del , CM000685.2:g.32614449del GRCh38
NC_000023.10:g.32632566del , CM000685.1:g.32632566del GRCh37
NC_000023.9:g.32542487del NCBI36
NG_012232.1:g.730161del , LRG_199:g.730161del

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.1336del MANE Select NP_003997.2:p.His446IlefsTer4
ENST00000357033.9:c.1336del MANE Select ENSP00000354923.3:p.His446IlefsTer4
NM_000109.3:c.1312del NP_000100.2:p.His438IlefsTer4
NM_000109.4:c.1312del NP_000100.3:p.His438IlefsTer4
NM_004006.2:c.1336del , LRG_199t1:c.1336del NP_003997.1:p.His446IlefsTer4
NM_004009.3:c.1324del NP_004000.1:p.His442IlefsTer4
NM_004010.3:c.967del NP_004001.1:p.His323IlefsTer4
ENST00000288447.8:c.1312del ENSP00000288447.4:p.His438IlefsTer4
ENST00000288447.9:c.1312del ENSP00000288447.4:p.His438IlefsTer4
ENST00000357033.8:c.1336del ENSP00000354923.3:p.His446IlefsTer4
ENST00000378677.6:c.1324del ENSP00000367948.2:p.His442IlefsTer4
ENST00000420596.5:c.94-249250del ENSP00000399897.1:n.94-249250del
ENST00000447523.1:c.247-40603del ENSP00000395904.1:n.247-40603del
ENST00000448370.5:c.94-249739del ENSP00000388559.1:n.94-249739del
ENST00000480751.1:n.87-40603del
ENST00000488902.5:n.336-397386del
ENST00000619831.4:c.1324del ENSP00000479270.1:p.His442IlefsTer4
ENST00000620040.4:c.1336del ENSP00000478150.1:p.His446IlefsTer4
ENST00000682071.1:c.967del ENSP00000508133.1:p.His323IlefsTer4
ENST00000682899.1:n.1543del
ENST00000682924.1:c.1332-18573del ENSP00000508187.1:n.1332-18573del
ENST00000683985.1:n.1543del
ENST00000684165.1:n.1543del
ENST00000684237.1:c.1207del ENSP00000507277.1:p.His403IlefsTer4
ENST00000684292.1:n.1543del
XM_006724468.2:c.1336del XP_006724531.1:p.His446IlefsTer4
XM_006724469.2:c.1312del XP_006724532.1:p.His438IlefsTer4
XM_006724469.3:c.1312del XP_006724532.1:p.His438IlefsTer4
XM_006724470.2:c.1336del XP_006724533.1:p.His446IlefsTer4
XM_006724470.3:c.1336del XP_006724533.1:p.His446IlefsTer4
XM_006724471.2:c.1336del XP_006724534.1:p.His446IlefsTer4
XM_006724472.2:c.1207del XP_006724535.1:p.His403IlefsTer4
XM_006724473.2:c.1336del XP_006724536.1:p.His446IlefsTer4
XM_006724474.2:c.1336del XP_006724537.1:p.His446IlefsTer4
XM_006724474.3:c.1336del XP_006724537.1:p.His446IlefsTer4
XM_006724475.2:c.1336del XP_006724538.1:p.His446IlefsTer4
XM_011545467.1:c.1336del XP_011543769.1:p.His446IlefsTer4
XM_011545468.1:c.1336del XP_011543770.1:p.His446IlefsTer4
XM_011545468.2:c.1336del XP_011543770.1:p.His446IlefsTer4
XM_011545469.1:c.1336del XP_011543771.1:p.His446IlefsTer4
XM_017029328.1:c.1336del XP_016884817.1:p.His446IlefsTer4
XM_017029329.1:c.1336del XP_016884818.1:p.His446IlefsTer4
XM_017029330.2:c.1336del XP_016884819.1:p.His446IlefsTer4