Canonical Allele Identifier: CA658658943

Gene: DMD

Linked Data

• ClinVar Variation Id: 447267
• ClinVar RCV Id: RCV000516812 ; RCV002222541 ; RCV002527467
• dbSNP Id: rs1556764753
• MyVariant Identifiers: chrX:g.31645811del (hg19) ; chrX:g.31627694del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31627697del , CM000685.2:g.31627697del	GRCh38
NC_000023.10:g.31645814del , CM000685.1:g.31645814del	GRCh37
NC_000023.9:g.31555735del	NCBI36
NG_012232.1:g.1716916del , LRG_199:g.1716916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3042del	ENSP00000350765.3:p.Glu1015SerfsTer2
ENST00000682238.1:c.816del	ENSP00000508124.1:p.Glu273SerfsTer2
ENST00000683450.1:n.1661del
ENST00000683851.1:n.1857del
ENST00000683957.1:n.1688del
ENST00000684130.1:c.816del	ENSP00000508037.1:p.Glu273SerfsTer2
ENST00000357033.9:c.8196del MANE Select	ENSP00000354923.3:p.Glu2733SerfsTer2
ENST00000619831.5:c.4164del	ENSP00000479270.2:p.Glu1389SerfsTer2
ENST00000620040.5:c.816del	ENSP00000478150.2:p.Glu273SerfsTer2
ENST00000680961.1:c.816del	ENSP00000506386.1:p.Glu273SerfsTer2
ENST00000681646.1:n.1857del
ENST00000357033.8:c.8196del	ENSP00000354923.3:p.Glu2733SerfsTer2
ENST00000358062.6:c.1284del	ENSP00000350765.2:p.Glu429SerfsTer2
ENST00000359836.5:c.816del	ENSP00000352894.1:p.Glu273SerfsTer2
ENST00000378677.6:c.8184del	ENSP00000367948.2:p.Glu2729SerfsTer2
ENST00000378707.7:c.816del	ENSP00000367979.3:p.Glu273SerfsTer2
ENST00000474231.5:c.816del	ENSP00000417123.1:p.Glu273SerfsTer2
ENST00000541735.5:c.816del	ENSP00000444119.1:p.Glu273SerfsTer2
ENST00000619831.4:c.8181del	ENSP00000479270.1:p.Glu2728SerfsTer2
ENST00000620040.4:c.8193del	ENSP00000478150.1:p.Glu2732SerfsTer2
NM_000109.3:c.8172del	NP_000100.2:p.Glu2725SerfsTer2
NM_004006.2:c.8196del , LRG_199t1:c.8196del	NP_003997.1:p.Glu2733SerfsTer2
NM_004009.3:c.8184del	NP_004000.1:p.Glu2729SerfsTer2
NM_004010.3:c.7827del	NP_004001.1:p.Glu2610SerfsTer2
NM_004011.3:c.4173del	NP_004002.2:p.Glu1392SerfsTer2
NM_004012.3:c.4164del	NP_004003.1:p.Glu1389SerfsTer2
NM_004013.2:c.816del	NP_004004.1:p.Glu273SerfsTer2
NM_004020.3:c.816del	NP_004011.2:p.Glu273SerfsTer2
NM_004021.2:c.816del	NP_004012.1:p.Glu273SerfsTer2
NM_004022.2:c.816del	NP_004013.1:p.Glu273SerfsTer2
NM_004023.2:c.816del	NP_004014.1:p.Glu273SerfsTer2
XM_006724468.2:c.8196del	XP_006724531.1:p.Glu2733SerfsTer2
XM_006724469.2:c.8172del	XP_006724532.1:p.Glu2725SerfsTer2
XM_006724470.2:c.8196del	XP_006724533.1:p.Glu2733SerfsTer2
XM_006724471.2:c.8196del	XP_006724534.1:p.Glu2733SerfsTer2
XM_006724472.2:c.8067del	XP_006724535.1:p.Glu2690SerfsTer2
XM_006724473.2:c.8058del	XP_006724536.1:p.Glu2687SerfsTer2
XM_006724474.2:c.8196del	XP_006724537.1:p.Glu2733SerfsTer2
XM_006724475.2:c.8196del	XP_006724538.1:p.Glu2733SerfsTer2
XM_011545467.1:c.8073del	XP_011543769.1:p.Glu2692SerfsTer2
XM_011545468.1:c.8196del	XP_011543770.1:p.Glu2733SerfsTer2
XM_006724469.3:c.8172del	XP_006724532.1:p.Glu2725SerfsTer2
XM_006724470.3:c.8196del	XP_006724533.1:p.Glu2733SerfsTer2
XM_006724474.3:c.8196del	XP_006724537.1:p.Glu2733SerfsTer2
XM_011545468.2:c.8196del	XP_011543770.1:p.Glu2733SerfsTer2
XM_017029328.1:c.8196del	XP_016884817.1:p.Glu2733SerfsTer2
XM_017029331.1:c.2370del	XP_016884820.1:p.Glu791SerfsTer2
NM_000109.4:c.8172del	NP_000100.3:p.Glu2725SerfsTer2
NM_004006.3:c.8196del MANE Select	NP_003997.2:p.Glu2733SerfsTer2
NM_004011.4:c.4173del	NP_004002.3:p.Glu1392SerfsTer2
NM_004012.4:c.4164del	NP_004003.2:p.Glu1389SerfsTer2
NM_004021.3:c.816del	NP_004012.2:p.Glu273SerfsTer2
NM_004023.3:c.816del	NP_004014.2:p.Glu273SerfsTer2
NM_004013.3:c.816del	NP_004004.2:p.Glu273SerfsTer2
NM_004020.4:c.816del	NP_004011.3:p.Glu273SerfsTer2
NM_004022.3:c.816del	NP_004013.2:p.Glu273SerfsTer2