Canonical Allele Identifier: CA645369757

Gene: DMD

Linked Data

• ClinVar Variation Id: 429274
• ClinVar RCV Id: RCV000493949
• dbSNP Id: rs1131691292
• MyVariant Identifiers: chrX:g.32328332del (hg19) ; chrX:g.32310215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32310215del , CM000685.2:g.32310215del	GRCh38
NC_000023.10:g.32328332del , CM000685.1:g.32328332del	GRCh37
NC_000023.9:g.32238253del	NCBI36
NG_012232.1:g.1034395del , LRG_199:g.1034395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.830del	ENSP00000350765.3:p.Tyr277LeufsTer7
ENST00000357033.9:c.5984del MANE Select	ENSP00000354923.3:p.Tyr1995LeufsTer7
ENST00000619831.5:c.1952del	ENSP00000479270.2:p.Tyr651LeufsTer7
ENST00000357033.8:c.5984del	ENSP00000354923.3:p.Tyr1995LeufsTer7
ENST00000378677.6:c.5972del	ENSP00000367948.2:p.Tyr1991LeufsTer7
ENST00000488902.5:n.336-93152del
ENST00000619831.4:c.5972del	ENSP00000479270.1:p.Tyr1991LeufsTer7
ENST00000620040.4:c.5984del	ENSP00000478150.1:p.Tyr1995LeufsTer7
NM_000109.3:c.5960del	NP_000100.2:p.Tyr1987LeufsTer7
NM_004006.2:c.5984del , LRG_199t1:c.5984del	NP_003997.1:p.Tyr1995LeufsTer7
NM_004009.3:c.5972del	NP_004000.1:p.Tyr1991LeufsTer7
NM_004010.3:c.5615del	NP_004001.1:p.Tyr1872LeufsTer7
NM_004011.3:c.1961del	NP_004002.2:p.Tyr654LeufsTer7
NM_004012.3:c.1952del	NP_004003.1:p.Tyr651LeufsTer7
XM_006724468.2:c.5984del	XP_006724531.1:p.Tyr1995LeufsTer7
XM_006724469.2:c.5960del	XP_006724532.1:p.Tyr1987LeufsTer7
XM_006724470.2:c.5984del	XP_006724533.1:p.Tyr1995LeufsTer7
XM_006724471.2:c.5984del	XP_006724534.1:p.Tyr1995LeufsTer7
XM_006724472.2:c.5855del	XP_006724535.1:p.Tyr1952LeufsTer7
XM_006724473.2:c.5846del	XP_006724536.1:p.Tyr1949LeufsTer7
XM_006724474.2:c.5984del	XP_006724537.1:p.Tyr1995LeufsTer7
XM_006724475.2:c.5984del	XP_006724538.1:p.Tyr1995LeufsTer7
XM_011545467.1:c.5861del	XP_011543769.1:p.Tyr1954LeufsTer7
XM_011545468.1:c.5984del	XP_011543770.1:p.Tyr1995LeufsTer7
XM_006724469.3:c.5960del	XP_006724532.1:p.Tyr1987LeufsTer7
XM_006724470.3:c.5984del	XP_006724533.1:p.Tyr1995LeufsTer7
XM_006724474.3:c.5984del	XP_006724537.1:p.Tyr1995LeufsTer7
XM_011545468.2:c.5984del	XP_011543770.1:p.Tyr1995LeufsTer7
XM_017029328.1:c.5984del	XP_016884817.1:p.Tyr1995LeufsTer7
XM_017029329.1:c.5984del	XP_016884818.1:p.Tyr1995LeufsTer7
XM_017029330.2:c.5984del	XP_016884819.1:p.Tyr1995LeufsTer7
XM_017029331.1:c.158del	XP_016884820.1:p.Tyr53LeufsTer7
NM_000109.4:c.5960del	NP_000100.3:p.Tyr1987LeufsTer7
NM_004006.3:c.5984del MANE Select	NP_003997.2:p.Tyr1995LeufsTer7
NM_004011.4:c.1961del	NP_004002.3:p.Tyr654LeufsTer7
NM_004012.4:c.1952del	NP_004003.2:p.Tyr651LeufsTer7