Canonical Allele Identifier: CA347585

Gene: DMD

Linked Data

• ClinVar Variation Id: 217207
• ClinVar RCV Id: RCV000201192 ; RCV000508459 ; RCV003137786
• dbSNP Id: rs863225006
• MyVariant Identifiers: chrX:g.32305805_32305808del (hg19) ; chrX:g.32287688_32287691del (hg38)
• PubMed: PMID:9067763

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287690_32287693del , CM000685.2:g.32287690_32287693del	GRCh38
NC_000023.10:g.32305807_32305810del , CM000685.1:g.32305807_32305810del	GRCh37
NC_000023.9:g.32215728_32215731del	NCBI36
NG_012232.1:g.1056919_1056922del , LRG_199:g.1056919_1056922del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.974_977del	ENSP00000350765.3:p.Asp325ValfsTer29
ENST00000357033.9:c.6128_6131del MANE Select	ENSP00000354923.3:p.Asp2043ValfsTer29
ENST00000619831.5:c.2096_2099del	ENSP00000479270.2:p.Asp699ValfsTer29
ENST00000357033.8:c.6128_6131del	ENSP00000354923.3:p.Asp2043ValfsTer29
ENST00000378677.6:c.6116_6119del	ENSP00000367948.2:p.Asp2039ValfsTer29
ENST00000488902.5:n.336-70628_336-70625del
ENST00000619831.4:c.6116_6119del	ENSP00000479270.1:p.Asp2039ValfsTer29
ENST00000620040.4:c.6128_6131del	ENSP00000478150.1:p.Asp2043ValfsTer29
NM_000109.3:c.6104_6107del	NP_000100.2:p.Asp2035ValfsTer29
NM_004006.2:c.6128_6131del , LRG_199t1:c.6128_6131del	NP_003997.1:p.Asp2043ValfsTer29
NM_004009.3:c.6116_6119del	NP_004000.1:p.Asp2039ValfsTer29
NM_004010.3:c.5759_5762del	NP_004001.1:p.Asp1920ValfsTer29
NM_004011.3:c.2105_2108del	NP_004002.2:p.Asp702ValfsTer29
NM_004012.3:c.2096_2099del	NP_004003.1:p.Asp699ValfsTer29
XM_006724468.2:c.6128_6131del	XP_006724531.1:p.Asp2043ValfsTer29
XM_006724469.2:c.6104_6107del	XP_006724532.1:p.Asp2035ValfsTer29
XM_006724470.2:c.6128_6131del	XP_006724533.1:p.Asp2043ValfsTer29
XM_006724471.2:c.6128_6131del	XP_006724534.1:p.Asp2043ValfsTer29
XM_006724472.2:c.5999_6002del	XP_006724535.1:p.Asp2000ValfsTer29
XM_006724473.2:c.5990_5993del	XP_006724536.1:p.Asp1997ValfsTer29
XM_006724474.2:c.6128_6131del	XP_006724537.1:p.Asp2043ValfsTer29
XM_006724475.2:c.6128_6131del	XP_006724538.1:p.Asp2043ValfsTer29
XM_011545467.1:c.6005_6008del	XP_011543769.1:p.Asp2002ValfsTer29
XM_011545468.1:c.6128_6131del	XP_011543770.1:p.Asp2043ValfsTer29
XM_006724469.3:c.6104_6107del	XP_006724532.1:p.Asp2035ValfsTer29
XM_006724470.3:c.6128_6131del	XP_006724533.1:p.Asp2043ValfsTer29
XM_006724474.3:c.6128_6131del	XP_006724537.1:p.Asp2043ValfsTer29
XM_011545468.2:c.6128_6131del	XP_011543770.1:p.Asp2043ValfsTer29
XM_017029328.1:c.6128_6131del	XP_016884817.1:p.Asp2043ValfsTer29
XM_017029329.1:c.6128_6131del	XP_016884818.1:p.Asp2043ValfsTer29
XM_017029330.2:c.6128_6131del	XP_016884819.1:p.Asp2043ValfsTer29
XM_017029331.1:c.302_305del	XP_016884820.1:p.Asp101ValfsTer29
NM_000109.4:c.6104_6107del	NP_000100.3:p.Asp2035ValfsTer29
NM_004006.3:c.6128_6131del MANE Select	NP_003997.2:p.Asp2043ValfsTer29
NM_004011.4:c.2105_2108del	NP_004002.3:p.Asp702ValfsTer29
NM_004012.4:c.2096_2099del	NP_004003.2:p.Asp699ValfsTer29