Canonical Allele Identifier: CA2695231987

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32464669_32464684del , CM000685.2:g.32464669_32464684del	GRCh38
NC_000023.10:g.32482786_32482801del , CM000685.1:g.32482786_32482801del	GRCh37
NC_000023.9:g.32392707_32392722del	NCBI36
NG_012232.1:g.879932_879947del , LRG_199:g.879932_879947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3391_3406del
ENST00000357033.9:c.3184_3199del MANE Select	ENSP00000354923.3:p.Lys1062LeufsTer5
ENST00000357033.8:c.3184_3199del	ENSP00000354923.3:p.Lys1062LeufsTer5
ENST00000378677.6:c.3172_3187del	ENSP00000367948.2:p.Lys1058LeufsTer5
ENST00000420596.5:c.94-99479_94-99464del	ENSP00000399897.1:n.94-99479_94-99464del
ENST00000448370.5:c.94-99968_94-99953del	ENSP00000388559.1:n.94-99968_94-99953del
ENST00000488902.5:n.336-247615_336-247600del
ENST00000619831.4:c.3172_3187del	ENSP00000479270.1:p.Lys1058LeufsTer5
ENST00000620040.4:c.3184_3199del	ENSP00000478150.1:p.Lys1062LeufsTer5
NM_000109.3:c.3160_3175del	NP_000100.2:p.Lys1054LeufsTer5
NM_004006.2:c.3184_3199del , LRG_199t1:c.3184_3199del	NP_003997.1:p.Lys1062LeufsTer5
NM_004009.3:c.3172_3187del	NP_004000.1:p.Lys1058LeufsTer5
NM_004010.3:c.2815_2830del	NP_004001.1:p.Lys939LeufsTer5
XM_006724468.2:c.3184_3199del	XP_006724531.1:p.Lys1062LeufsTer5
XM_006724469.2:c.3160_3175del	XP_006724532.1:p.Lys1054LeufsTer5
XM_006724470.2:c.3184_3199del	XP_006724533.1:p.Lys1062LeufsTer5
XM_006724471.2:c.3184_3199del	XP_006724534.1:p.Lys1062LeufsTer5
XM_006724472.2:c.3055_3070del	XP_006724535.1:p.Lys1019LeufsTer5
XM_006724473.2:c.3184_3199del	XP_006724536.1:p.Lys1062LeufsTer5
XM_006724474.2:c.3184_3199del	XP_006724537.1:p.Lys1062LeufsTer5
XM_006724475.2:c.3184_3199del	XP_006724538.1:p.Lys1062LeufsTer5
XM_011545467.1:c.3184_3199del	XP_011543769.1:p.Lys1062LeufsTer5
XM_011545468.1:c.3184_3199del	XP_011543770.1:p.Lys1062LeufsTer5
XM_011545469.1:c.3184_3199del	XP_011543771.1:p.Lys1062LeufsTer5
XM_006724469.3:c.3160_3175del	XP_006724532.1:p.Lys1054LeufsTer5
XM_006724470.3:c.3184_3199del	XP_006724533.1:p.Lys1062LeufsTer5
XM_006724474.3:c.3184_3199del	XP_006724537.1:p.Lys1062LeufsTer5
XM_011545468.2:c.3184_3199del	XP_011543770.1:p.Lys1062LeufsTer5
XM_017029328.1:c.3184_3199del	XP_016884817.1:p.Lys1062LeufsTer5
XM_017029329.1:c.3184_3199del	XP_016884818.1:p.Lys1062LeufsTer5
XM_017029330.2:c.3184_3199del	XP_016884819.1:p.Lys1062LeufsTer5
NM_000109.4:c.3160_3175del	NP_000100.3:p.Lys1054LeufsTer5
NM_004006.3:c.3184_3199del MANE Select	NP_003997.2:p.Lys1062LeufsTer5