Canonical Allele Identifier: CA16043707

Gene: DMD

Linked Data

• ClinVar Variation Id: 374319
• ClinVar RCV Id: RCV000415013
• dbSNP Id: rs1057518692
• MyVariant Identifiers: chrX:g.32361338del (hg19) ; chrX:g.32343221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32343222del , CM000685.2:g.32343222del	GRCh38
NC_000023.10:g.32361339del , CM000685.1:g.32361339del	GRCh37
NC_000023.9:g.32271260del	NCBI36
NG_012232.1:g.1001389del , LRG_199:g.1001389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.498del	ENSP00000350765.3:p.Arg166SerfsTer7
ENST00000357033.9:c.5652del MANE Select	ENSP00000354923.3:p.Arg1884SerfsTer7
ENST00000619831.5:c.1620del	ENSP00000479270.2:p.Arg540SerfsTer7
ENST00000357033.8:c.5652del	ENSP00000354923.3:p.Arg1884SerfsTer7
ENST00000378677.6:c.5640del	ENSP00000367948.2:p.Arg1880SerfsTer7
ENST00000488902.5:n.336-126158del
ENST00000493412.1:c.309del	ENSP00000417725.1:p.Arg103SerfsTer7
ENST00000619831.4:c.5640del	ENSP00000479270.1:p.Arg1880SerfsTer7
ENST00000620040.4:c.5652del	ENSP00000478150.1:p.Arg1884SerfsTer7
NM_000109.3:c.5628del	NP_000100.2:p.Arg1876SerfsTer7
NM_004006.2:c.5652del , LRG_199t1:c.5652del	NP_003997.1:p.Arg1884SerfsTer7
NM_004009.3:c.5640del	NP_004000.1:p.Arg1880SerfsTer7
NM_004010.3:c.5283del	NP_004001.1:p.Arg1761SerfsTer7
NM_004011.3:c.1629del	NP_004002.2:p.Arg543SerfsTer7
NM_004012.3:c.1620del	NP_004003.1:p.Arg540SerfsTer7
XM_006724468.2:c.5652del	XP_006724531.1:p.Arg1884SerfsTer7
XM_006724469.2:c.5628del	XP_006724532.1:p.Arg1876SerfsTer7
XM_006724470.2:c.5652del	XP_006724533.1:p.Arg1884SerfsTer7
XM_006724471.2:c.5652del	XP_006724534.1:p.Arg1884SerfsTer7
XM_006724472.2:c.5523del	XP_006724535.1:p.Arg1841SerfsTer7
XM_006724473.2:c.5514del	XP_006724536.1:p.Arg1838SerfsTer7
XM_006724474.2:c.5652del	XP_006724537.1:p.Arg1884SerfsTer7
XM_006724475.2:c.5652del	XP_006724538.1:p.Arg1884SerfsTer7
XM_011545467.1:c.5529del	XP_011543769.1:p.Arg1843SerfsTer7
XM_011545468.1:c.5652del	XP_011543770.1:p.Arg1884SerfsTer7
XM_011545469.1:c.5652del	XP_011543771.1:p.Arg1884SerfsTer7
XM_006724469.3:c.5628del	XP_006724532.1:p.Arg1876SerfsTer7
XM_006724470.3:c.5652del	XP_006724533.1:p.Arg1884SerfsTer7
XM_006724474.3:c.5652del	XP_006724537.1:p.Arg1884SerfsTer7
XM_011545468.2:c.5652del	XP_011543770.1:p.Arg1884SerfsTer7
XM_017029328.1:c.5652del	XP_016884817.1:p.Arg1884SerfsTer7
XM_017029329.1:c.5652del	XP_016884818.1:p.Arg1884SerfsTer7
XM_017029330.2:c.5652del	XP_016884819.1:p.Arg1884SerfsTer7
NM_000109.4:c.5628del	NP_000100.3:p.Arg1876SerfsTer7
NM_004006.3:c.5652del MANE Select	NP_003997.2:p.Arg1884SerfsTer7
NM_004011.4:c.1629del	NP_004002.3:p.Arg543SerfsTer7
NM_004012.4:c.1620del	NP_004003.2:p.Arg540SerfsTer7