Canonical Allele Identifier: CA913191127

Gene: DMD

Linked Data

• ClinVar Variation Id: 593021
• ClinVar RCV Id: RCV003465656
• dbSNP Id: rs1569558953

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343144_32343148del , CM000685.2:g.32343144_32343148del	GRCh38
NC_000023.10:g.32361261_32361265del , CM000685.1:g.32361261_32361265del	GRCh37
NC_000023.9:g.32271182_32271186del	NCBI36
NG_012232.1:g.1001466_1001470del , LRG_199:g.1001466_1001470del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.575_579del	ENSP00000350765.3:p.Arg192AsnfsTer5
ENST00000357033.9:c.5729_5733del MANE Select	ENSP00000354923.3:p.Arg1910AsnfsTer5
ENST00000619831.5:c.1697_1701del	ENSP00000479270.2:p.Arg566AsnfsTer5
ENST00000357033.8:c.5729_5733del	ENSP00000354923.3:p.Arg1910AsnfsTer5
ENST00000378677.6:c.5717_5721del	ENSP00000367948.2:p.Arg1906AsnfsTer5
ENST00000488902.5:n.336-126081_336-126077del
ENST00000493412.1:c.386_390del	ENSP00000417725.1:p.Arg129AsnfsTer?
ENST00000619831.4:c.5717_5721del	ENSP00000479270.1:p.Arg1906AsnfsTer5
ENST00000620040.4:c.5729_5733del	ENSP00000478150.1:p.Arg1910AsnfsTer5
NM_000109.3:c.5705_5709del	NP_000100.2:p.Arg1902AsnfsTer5
NM_004006.2:c.5729_5733del , LRG_199t1:c.5729_5733del	NP_003997.1:p.Arg1910AsnfsTer5
NM_004009.3:c.5717_5721del	NP_004000.1:p.Arg1906AsnfsTer5
NM_004010.3:c.5360_5364del	NP_004001.1:p.Arg1787AsnfsTer5
NM_004011.3:c.1706_1710del	NP_004002.2:p.Arg569AsnfsTer5
NM_004012.3:c.1697_1701del	NP_004003.1:p.Arg566AsnfsTer5
XM_006724468.2:c.5729_5733del	XP_006724531.1:p.Arg1910AsnfsTer5
XM_006724469.2:c.5705_5709del	XP_006724532.1:p.Arg1902AsnfsTer5
XM_006724470.2:c.5729_5733del	XP_006724533.1:p.Arg1910AsnfsTer5
XM_006724471.2:c.5729_5733del	XP_006724534.1:p.Arg1910AsnfsTer5
XM_006724472.2:c.5600_5604del	XP_006724535.1:p.Arg1867AsnfsTer5
XM_006724473.2:c.5591_5595del	XP_006724536.1:p.Arg1864AsnfsTer5
XM_006724474.2:c.5729_5733del	XP_006724537.1:p.Arg1910AsnfsTer5
XM_006724475.2:c.5729_5733del	XP_006724538.1:p.Arg1910AsnfsTer5
XM_011545467.1:c.5606_5610del	XP_011543769.1:p.Arg1869AsnfsTer5
XM_011545468.1:c.5729_5733del	XP_011543770.1:p.Arg1910AsnfsTer5
XM_011545469.1:c.5729_5733del	XP_011543771.1:p.Arg1910AsnfsTer?
XM_006724469.3:c.5705_5709del	XP_006724532.1:p.Arg1902AsnfsTer5
XM_006724470.3:c.5729_5733del	XP_006724533.1:p.Arg1910AsnfsTer5
XM_006724474.3:c.5729_5733del	XP_006724537.1:p.Arg1910AsnfsTer5
XM_011545468.2:c.5729_5733del	XP_011543770.1:p.Arg1910AsnfsTer5
XM_017029328.1:c.5729_5733del	XP_016884817.1:p.Arg1910AsnfsTer5
XM_017029329.1:c.5729_5733del	XP_016884818.1:p.Arg1910AsnfsTer5
XM_017029330.2:c.5729_5733del	XP_016884819.1:p.Arg1910AsnfsTer5
NM_000109.4:c.5705_5709del	NP_000100.3:p.Arg1902AsnfsTer5
NM_004006.3:c.5729_5733del MANE Select	NP_003997.2:p.Arg1910AsnfsTer5
NM_004011.4:c.1706_1710del	NP_004002.3:p.Arg569AsnfsTer5
NM_004012.4:c.1697_1701del	NP_004003.2:p.Arg566AsnfsTer5