Canonical Allele Identifier: CA347483

Gene: DMD

Linked Data

• ClinVar Variation Id: 217204
• ClinVar RCV Id: RCV000201033 ; RCV000401031
• dbSNP Id: rs863225003
• MyVariant Identifiers: chrX:g.32361385_32361388del (hg19) ; chrX:g.32343268_32343271del (hg38)
• PubMed: PMID:17041906

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343270_32343273del , CM000685.2:g.32343270_32343273del	GRCh38
NC_000023.10:g.32361387_32361390del , CM000685.1:g.32361387_32361390del	GRCh37
NC_000023.9:g.32271308_32271311del	NCBI36
NG_012232.1:g.1001339_1001342del , LRG_199:g.1001339_1001342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.448_451del	ENSP00000350765.3:p.Arg150GlufsTer5
ENST00000357033.9:c.5602_5605del MANE Select	ENSP00000354923.3:p.Arg1868GlufsTer5
ENST00000619831.5:c.1570_1573del	ENSP00000479270.2:p.Arg524GlufsTer5
ENST00000357033.8:c.5602_5605del	ENSP00000354923.3:p.Arg1868GlufsTer5
ENST00000378677.6:c.5590_5593del	ENSP00000367948.2:p.Arg1864GlufsTer5
ENST00000488902.5:n.336-126208_336-126205del
ENST00000493412.1:c.259_262del	ENSP00000417725.1:p.Arg87GlufsTer5
ENST00000619831.4:c.5590_5593del	ENSP00000479270.1:p.Arg1864GlufsTer5
ENST00000620040.4:c.5602_5605del	ENSP00000478150.1:p.Arg1868GlufsTer5
NM_000109.3:c.5578_5581del	NP_000100.2:p.Arg1860GlufsTer5
NM_004006.2:c.5602_5605del , LRG_199t1:c.5602_5605del	NP_003997.1:p.Arg1868GlufsTer5
NM_004009.3:c.5590_5593del	NP_004000.1:p.Arg1864GlufsTer5
NM_004010.3:c.5233_5236del	NP_004001.1:p.Arg1745GlufsTer5
NM_004011.3:c.1579_1582del	NP_004002.2:p.Arg527GlufsTer5
NM_004012.3:c.1570_1573del	NP_004003.1:p.Arg524GlufsTer5
XM_006724468.2:c.5602_5605del	XP_006724531.1:p.Arg1868GlufsTer5
XM_006724469.2:c.5578_5581del	XP_006724532.1:p.Arg1860GlufsTer5
XM_006724470.2:c.5602_5605del	XP_006724533.1:p.Arg1868GlufsTer5
XM_006724471.2:c.5602_5605del	XP_006724534.1:p.Arg1868GlufsTer5
XM_006724472.2:c.5473_5476del	XP_006724535.1:p.Arg1825GlufsTer5
XM_006724473.2:c.5464_5467del	XP_006724536.1:p.Arg1822GlufsTer5
XM_006724474.2:c.5602_5605del	XP_006724537.1:p.Arg1868GlufsTer5
XM_006724475.2:c.5602_5605del	XP_006724538.1:p.Arg1868GlufsTer5
XM_011545467.1:c.5479_5482del	XP_011543769.1:p.Arg1827GlufsTer5
XM_011545468.1:c.5602_5605del	XP_011543770.1:p.Arg1868GlufsTer5
XM_011545469.1:c.5602_5605del	XP_011543771.1:p.Arg1868GlufsTer5
XM_006724469.3:c.5578_5581del	XP_006724532.1:p.Arg1860GlufsTer5
XM_006724470.3:c.5602_5605del	XP_006724533.1:p.Arg1868GlufsTer5
XM_006724474.3:c.5602_5605del	XP_006724537.1:p.Arg1868GlufsTer5
XM_011545468.2:c.5602_5605del	XP_011543770.1:p.Arg1868GlufsTer5
XM_017029328.1:c.5602_5605del	XP_016884817.1:p.Arg1868GlufsTer5
XM_017029329.1:c.5602_5605del	XP_016884818.1:p.Arg1868GlufsTer5
XM_017029330.2:c.5602_5605del	XP_016884819.1:p.Arg1868GlufsTer5
NM_000109.4:c.5578_5581del	NP_000100.3:p.Arg1860GlufsTer5
NM_004006.3:c.5602_5605del MANE Select	NP_003997.2:p.Arg1868GlufsTer5
NM_004011.4:c.1579_1582del	NP_004002.3:p.Arg527GlufsTer5
NM_004012.4:c.1570_1573del	NP_004003.2:p.Arg524GlufsTer5