Canonical Allele Identifier: CA267100

Gene: DMD

Linked Data

• ClinVar Variation Id: 94694
• ClinVar RCV Id: RCV000080685
• dbSNP Id: rs398124005
• MyVariant Identifiers: chrX:g.32305754del (hg19) ; chrX:g.32305754delG (hg19) ; chrX:g.32287637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287637del , CM000685.2:g.32287637del	GRCh38
NC_000023.10:g.32305754del , CM000685.1:g.32305754del	GRCh37
NC_000023.9:g.32215675del	NCBI36
NG_012232.1:g.1056973del , LRG_199:g.1056973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1028del	ENSP00000350765.3:p.Ala343GlufsTer12
ENST00000357033.9:c.6182del MANE Select	ENSP00000354923.3:p.Ala2061GlufsTer12
ENST00000619831.5:c.2150del	ENSP00000479270.2:p.Ala717GlufsTer12
ENST00000357033.8:c.6182del	ENSP00000354923.3:p.Ala2061GlufsTer12
ENST00000378677.6:c.6170del	ENSP00000367948.2:p.Ala2057GlufsTer12
ENST00000488902.5:n.336-70574del
ENST00000619831.4:c.6170del	ENSP00000479270.1:p.Ala2057GlufsTer12
ENST00000620040.4:c.6182del	ENSP00000478150.1:p.Ala2061GlufsTer12
NM_000109.3:c.6158del	NP_000100.2:p.Ala2053GlufsTer12
NM_004006.2:c.6182del , LRG_199t1:c.6182del	NP_003997.1:p.Ala2061GlufsTer12
NM_004009.3:c.6170del	NP_004000.1:p.Ala2057GlufsTer12
NM_004010.3:c.5813del	NP_004001.1:p.Ala1938GlufsTer12
NM_004011.3:c.2159del	NP_004002.2:p.Ala720GlufsTer12
NM_004012.3:c.2150del	NP_004003.1:p.Ala717GlufsTer12
XM_006724468.2:c.6182del	XP_006724531.1:p.Ala2061GlufsTer12
XM_006724469.2:c.6158del	XP_006724532.1:p.Ala2053GlufsTer12
XM_006724470.2:c.6182del	XP_006724533.1:p.Ala2061GlufsTer12
XM_006724471.2:c.6182del	XP_006724534.1:p.Ala2061GlufsTer12
XM_006724472.2:c.6053del	XP_006724535.1:p.Ala2018GlufsTer12
XM_006724473.2:c.6044del	XP_006724536.1:p.Ala2015GlufsTer12
XM_006724474.2:c.6182del	XP_006724537.1:p.Ala2061GlufsTer12
XM_006724475.2:c.6182del	XP_006724538.1:p.Ala2061GlufsTer12
XM_011545467.1:c.6059del	XP_011543769.1:p.Ala2020GlufsTer12
XM_011545468.1:c.6182del	XP_011543770.1:p.Ala2061GlufsTer12
XM_006724469.3:c.6158del	XP_006724532.1:p.Ala2053GlufsTer12
XM_006724470.3:c.6182del	XP_006724533.1:p.Ala2061GlufsTer12
XM_006724474.3:c.6182del	XP_006724537.1:p.Ala2061GlufsTer12
XM_011545468.2:c.6182del	XP_011543770.1:p.Ala2061GlufsTer12
XM_017029328.1:c.6182del	XP_016884817.1:p.Ala2061GlufsTer12
XM_017029329.1:c.6182del	XP_016884818.1:p.Ala2061GlufsTer12
XM_017029330.2:c.6182del	XP_016884819.1:p.Ala2061GlufsTer12
XM_017029331.1:c.356del	XP_016884820.1:p.Ala119GlufsTer12
NM_000109.4:c.6158del	NP_000100.3:p.Ala2053GlufsTer12
NM_004006.3:c.6182del MANE Select	NP_003997.2:p.Ala2061GlufsTer12
NM_004011.4:c.2159del	NP_004002.3:p.Ala720GlufsTer12
NM_004012.4:c.2150del	NP_004003.2:p.Ala717GlufsTer12