Canonical Allele Identifier: CA2820327610

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454673_32454676del , CM000685.2:g.32454673_32454676del	GRCh38
NC_000023.10:g.32472790_32472793del , CM000685.1:g.32472790_32472793del	GRCh37
NC_000023.9:g.32382711_32382714del	NCBI36
NG_012232.1:g.889934_889937del , LRG_199:g.889934_889937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3796_3799del
ENST00000357033.9:c.3589_3592del MANE Select	ENSP00000354923.3:p.Val1197LysfsTer3
ENST00000357033.8:c.3589_3592del	ENSP00000354923.3:p.Val1197LysfsTer3
ENST00000378677.6:c.3577_3580del	ENSP00000367948.2:p.Val1193LysfsTer3
ENST00000420596.5:c.94-89477_94-89474del	ENSP00000399897.1:n.94-89477_94-89474del
ENST00000448370.5:c.94-89966_94-89963del	ENSP00000388559.1:n.94-89966_94-89963del
ENST00000488902.5:n.336-237613_336-237610del
ENST00000619831.4:c.3577_3580del	ENSP00000479270.1:p.Val1193LysfsTer3
ENST00000620040.4:c.3589_3592del	ENSP00000478150.1:p.Val1197LysfsTer3
NM_000109.3:c.3565_3568del	NP_000100.2:p.Val1189LysfsTer3
NM_004006.2:c.3589_3592del , LRG_199t1:c.3589_3592del	NP_003997.1:p.Val1197LysfsTer3
NM_004009.3:c.3577_3580del	NP_004000.1:p.Val1193LysfsTer3
NM_004010.3:c.3220_3223del	NP_004001.1:p.Val1074LysfsTer3
XM_006724468.2:c.3589_3592del	XP_006724531.1:p.Val1197LysfsTer3
XM_006724469.2:c.3565_3568del	XP_006724532.1:p.Val1189LysfsTer3
XM_006724470.2:c.3589_3592del	XP_006724533.1:p.Val1197LysfsTer3
XM_006724471.2:c.3589_3592del	XP_006724534.1:p.Val1197LysfsTer3
XM_006724472.2:c.3460_3463del	XP_006724535.1:p.Val1154LysfsTer3
XM_006724473.2:c.3589_3592del	XP_006724536.1:p.Val1197LysfsTer3
XM_006724474.2:c.3589_3592del	XP_006724537.1:p.Val1197LysfsTer3
XM_006724475.2:c.3589_3592del	XP_006724538.1:p.Val1197LysfsTer3
XM_011545467.1:c.3589_3592del	XP_011543769.1:p.Val1197LysfsTer3
XM_011545468.1:c.3589_3592del	XP_011543770.1:p.Val1197LysfsTer3
XM_011545469.1:c.3589_3592del	XP_011543771.1:p.Val1197LysfsTer3
XM_006724469.3:c.3565_3568del	XP_006724532.1:p.Val1189LysfsTer3
XM_006724470.3:c.3589_3592del	XP_006724533.1:p.Val1197LysfsTer3
XM_006724474.3:c.3589_3592del	XP_006724537.1:p.Val1197LysfsTer3
XM_011545468.2:c.3589_3592del	XP_011543770.1:p.Val1197LysfsTer3
XM_017029328.1:c.3589_3592del	XP_016884817.1:p.Val1197LysfsTer3
XM_017029329.1:c.3589_3592del	XP_016884818.1:p.Val1197LysfsTer3
XM_017029330.2:c.3589_3592del	XP_016884819.1:p.Val1197LysfsTer3
NM_000109.4:c.3565_3568del	NP_000100.3:p.Val1189LysfsTer3
NM_004006.3:c.3589_3592del MANE Select	NP_003997.2:p.Val1197LysfsTer3