Canonical Allele Identifier: CA2695231990

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32464692_32464695del , CM000685.2:g.32464692_32464695del	GRCh38
NC_000023.10:g.32482809_32482812del , CM000685.1:g.32482809_32482812del	GRCh37
NC_000023.9:g.32392730_32392733del	NCBI36
NG_012232.1:g.879918_879921del , LRG_199:g.879918_879921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3377_3380del
ENST00000357033.9:c.3170_3173del MANE Select	ENSP00000354923.3:p.Ile1057LysfsTer3
ENST00000357033.8:c.3170_3173del	ENSP00000354923.3:p.Ile1057LysfsTer3
ENST00000378677.6:c.3158_3161del	ENSP00000367948.2:p.Ile1053LysfsTer3
ENST00000420596.5:c.94-99493_94-99490del	ENSP00000399897.1:n.94-99493_94-99490del
ENST00000448370.5:c.94-99982_94-99979del	ENSP00000388559.1:n.94-99982_94-99979del
ENST00000488902.5:n.336-247629_336-247626del
ENST00000619831.4:c.3158_3161del	ENSP00000479270.1:p.Ile1053LysfsTer3
ENST00000620040.4:c.3170_3173del	ENSP00000478150.1:p.Ile1057LysfsTer3
NM_000109.3:c.3146_3149del	NP_000100.2:p.Ile1049LysfsTer3
NM_004006.2:c.3170_3173del , LRG_199t1:c.3170_3173del	NP_003997.1:p.Ile1057LysfsTer3
NM_004009.3:c.3158_3161del	NP_004000.1:p.Ile1053LysfsTer3
NM_004010.3:c.2801_2804del	NP_004001.1:p.Ile934LysfsTer3
XM_006724468.2:c.3170_3173del	XP_006724531.1:p.Ile1057LysfsTer3
XM_006724469.2:c.3146_3149del	XP_006724532.1:p.Ile1049LysfsTer3
XM_006724470.2:c.3170_3173del	XP_006724533.1:p.Ile1057LysfsTer3
XM_006724471.2:c.3170_3173del	XP_006724534.1:p.Ile1057LysfsTer3
XM_006724472.2:c.3041_3044del	XP_006724535.1:p.Ile1014LysfsTer3
XM_006724473.2:c.3170_3173del	XP_006724536.1:p.Ile1057LysfsTer3
XM_006724474.2:c.3170_3173del	XP_006724537.1:p.Ile1057LysfsTer3
XM_006724475.2:c.3170_3173del	XP_006724538.1:p.Ile1057LysfsTer3
XM_011545467.1:c.3170_3173del	XP_011543769.1:p.Ile1057LysfsTer3
XM_011545468.1:c.3170_3173del	XP_011543770.1:p.Ile1057LysfsTer3
XM_011545469.1:c.3170_3173del	XP_011543771.1:p.Ile1057LysfsTer3
XM_006724469.3:c.3146_3149del	XP_006724532.1:p.Ile1049LysfsTer3
XM_006724470.3:c.3170_3173del	XP_006724533.1:p.Ile1057LysfsTer3
XM_006724474.3:c.3170_3173del	XP_006724537.1:p.Ile1057LysfsTer3
XM_011545468.2:c.3170_3173del	XP_011543770.1:p.Ile1057LysfsTer3
XM_017029328.1:c.3170_3173del	XP_016884817.1:p.Ile1057LysfsTer3
XM_017029329.1:c.3170_3173del	XP_016884818.1:p.Ile1057LysfsTer3
XM_017029330.2:c.3170_3173del	XP_016884819.1:p.Ile1057LysfsTer3
NM_000109.4:c.3146_3149del	NP_000100.3:p.Ile1049LysfsTer3
NM_004006.3:c.3170_3173del MANE Select	NP_003997.2:p.Ile1057LysfsTer3