Canonical Allele Identifier: CA2695238934

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365087_32365088del , CM000685.2:g.32365087_32365088del	GRCh38
NC_000023.10:g.32383204_32383205del , CM000685.1:g.32383204_32383205del	GRCh37
NC_000023.9:g.32293125_32293126del	NCBI36
NG_012232.1:g.979523_979524del , LRG_199:g.979523_979524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4958_4959del MANE Select	ENSP00000354923.3:p.Leu1653GlnfsTer5
ENST00000619831.5:c.926_927del	ENSP00000479270.2:p.Leu309GlnfsTer5
ENST00000357033.8:c.4958_4959del	ENSP00000354923.3:p.Leu1653GlnfsTer5
ENST00000378677.6:c.4946_4947del	ENSP00000367948.2:p.Leu1649GlnfsTer5
ENST00000420596.5:c.206_207del	ENSP00000399897.1:p.Leu69GlnfsTer5
ENST00000448370.5:c.94-377_94-376del	ENSP00000388559.1:n.94-377_94-376del
ENST00000488902.5:n.336-148024_336-148023del
ENST00000619831.4:c.4946_4947del	ENSP00000479270.1:p.Leu1649GlnfsTer5
ENST00000620040.4:c.4958_4959del	ENSP00000478150.1:p.Leu1653GlnfsTer5
NM_000109.3:c.4934_4935del	NP_000100.2:p.Leu1645GlnfsTer5
NM_004006.2:c.4958_4959del , LRG_199t1:c.4958_4959del	NP_003997.1:p.Leu1653GlnfsTer5
NM_004009.3:c.4946_4947del	NP_004000.1:p.Leu1649GlnfsTer5
NM_004010.3:c.4589_4590del	NP_004001.1:p.Leu1530GlnfsTer5
NM_004011.3:c.935_936del	NP_004002.2:p.Leu312GlnfsTer5
NM_004012.3:c.926_927del	NP_004003.1:p.Leu309GlnfsTer5
XM_006724468.2:c.4958_4959del	XP_006724531.1:p.Leu1653GlnfsTer5
XM_006724469.2:c.4934_4935del	XP_006724532.1:p.Leu1645GlnfsTer5
XM_006724470.2:c.4958_4959del	XP_006724533.1:p.Leu1653GlnfsTer5
XM_006724471.2:c.4958_4959del	XP_006724534.1:p.Leu1653GlnfsTer5
XM_006724472.2:c.4829_4830del	XP_006724535.1:p.Leu1610GlnfsTer5
XM_006724473.2:c.4958_4959del	XP_006724536.1:p.Leu1653GlnfsTer5
XM_006724474.2:c.4958_4959del	XP_006724537.1:p.Leu1653GlnfsTer5
XM_006724475.2:c.4958_4959del	XP_006724538.1:p.Leu1653GlnfsTer5
XM_011545467.1:c.4958_4959del	XP_011543769.1:p.Leu1653GlnfsTer5
XM_011545468.1:c.4958_4959del	XP_011543770.1:p.Leu1653GlnfsTer5
XM_011545469.1:c.4958_4959del	XP_011543771.1:p.Leu1653GlnfsTer5
XM_006724469.3:c.4934_4935del	XP_006724532.1:p.Leu1645GlnfsTer5
XM_006724470.3:c.4958_4959del	XP_006724533.1:p.Leu1653GlnfsTer5
XM_006724474.3:c.4958_4959del	XP_006724537.1:p.Leu1653GlnfsTer5
XM_011545468.2:c.4958_4959del	XP_011543770.1:p.Leu1653GlnfsTer5
XM_017029328.1:c.4958_4959del	XP_016884817.1:p.Leu1653GlnfsTer5
XM_017029329.1:c.4958_4959del	XP_016884818.1:p.Leu1653GlnfsTer5
XM_017029330.2:c.4958_4959del	XP_016884819.1:p.Leu1653GlnfsTer5
NM_000109.4:c.4934_4935del	NP_000100.3:p.Leu1645GlnfsTer5
NM_004006.3:c.4958_4959del MANE Select	NP_003997.2:p.Leu1653GlnfsTer5
NM_004011.4:c.935_936del	NP_004002.3:p.Leu312GlnfsTer5
NM_004012.4:c.926_927del	NP_004003.2:p.Leu309GlnfsTer5