Canonical Allele Identifier: CA2422769892

Gene: DMD

Linked Data

• ClinVar Variation Id: 2004127
• ClinVar RCV Id: RCV002815875
• dbSNP Id: rs2097847907

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32364596_32364598del , CM000685.2:g.32364596_32364598del	GRCh38
NC_000023.10:g.32382713_32382715del , CM000685.1:g.32382713_32382715del	GRCh37
NC_000023.9:g.32292634_32292636del	NCBI36
NG_012232.1:g.980016_980018del , LRG_199:g.980016_980018del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357033.9:c.5142_5144del MANE Select	ENSP00000354923.3:p.Glu1714del
ENST00000619831.5:c.1110_1112del	ENSP00000479270.2:p.Glu370del
ENST00000357033.8:c.5142_5144del	ENSP00000354923.3:p.Glu1714del
ENST00000378677.6:c.5130_5132del	ENSP00000367948.2:p.Glu1710del
ENST00000488902.5:n.336-147531_336-147529del
ENST00000619831.4:c.5130_5132del	ENSP00000479270.1:p.Glu1710del
ENST00000620040.4:c.5142_5144del	ENSP00000478150.1:p.Glu1714del
NM_000109.3:c.5118_5120del	NP_000100.2:p.Glu1706del
NM_004006.2:c.5142_5144del , LRG_199t1:c.5142_5144del	NP_003997.1:p.Glu1714del
NM_004009.3:c.5130_5132del	NP_004000.1:p.Glu1710del
NM_004010.3:c.4773_4775del	NP_004001.1:p.Glu1591del
NM_004011.3:c.1119_1121del	NP_004002.2:p.Glu373del
NM_004012.3:c.1110_1112del	NP_004003.1:p.Glu370del
XM_006724468.2:c.5142_5144del	XP_006724531.1:p.Glu1714del
XM_006724469.2:c.5118_5120del	XP_006724532.1:p.Glu1706del
XM_006724470.2:c.5142_5144del	XP_006724533.1:p.Glu1714del
XM_006724471.2:c.5142_5144del	XP_006724534.1:p.Glu1714del
XM_006724472.2:c.5013_5015del	XP_006724535.1:p.Glu1671del
XM_006724473.2:c.5142_5144del	XP_006724536.1:p.Glu1714del
XM_006724474.2:c.5142_5144del	XP_006724537.1:p.Glu1714del
XM_006724475.2:c.5142_5144del	XP_006724538.1:p.Glu1714del
XM_011545467.1:c.5142_5144del	XP_011543769.1:p.Glu1714del
XM_011545468.1:c.5142_5144del	XP_011543770.1:p.Glu1714del
XM_011545469.1:c.5142_5144del	XP_011543771.1:p.Glu1714del
XM_006724469.3:c.5118_5120del	XP_006724532.1:p.Glu1706del
XM_006724470.3:c.5142_5144del	XP_006724533.1:p.Glu1714del
XM_006724474.3:c.5142_5144del	XP_006724537.1:p.Glu1714del
XM_011545468.2:c.5142_5144del	XP_011543770.1:p.Glu1714del
XM_017029328.1:c.5142_5144del	XP_016884817.1:p.Glu1714del
XM_017029329.1:c.5142_5144del	XP_016884818.1:p.Glu1714del
XM_017029330.2:c.5142_5144del	XP_016884819.1:p.Glu1714del
NM_000109.4:c.5118_5120del	NP_000100.3:p.Glu1706del
NM_004006.3:c.5142_5144del MANE Select	NP_003997.2:p.Glu1714del
NM_004011.4:c.1119_1121del	NP_004002.3:p.Glu373del
NM_004012.4:c.1110_1112del	NP_004003.2:p.Glu370del