Canonical Allele Identifier: CA658799657

Gene: DMD

Linked Data

• ClinVar Variation Id: 523469
• ClinVar RCV Id: RCV000626858
• dbSNP Id: rs1556880327
• MyVariant Identifiers: chrX:g.31792300dup (hg19) ; chrX:g.31774183dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774183dup , CM000685.2:g.31774183dup	GRCh38
NC_000023.10:g.31792300dup , CM000685.1:g.31792300dup	GRCh37
NC_000023.9:g.31702221dup	NCBI36
NG_012232.1:g.1570427dup , LRG_199:g.1570427dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2165dup	ENSP00000350765.3:p.Thr723AspfsTer12
ENST00000682238.1:c.-62dup	ENSP00000508124.1:n.-62dup
ENST00000683117.1:n.980dup
ENST00000683450.1:n.902dup
ENST00000683851.1:n.980dup
ENST00000683957.1:n.811dup
ENST00000684130.1:c.-62dup	ENSP00000508037.1:n.-62dup
ENST00000357033.9:c.7319dup MANE Select	ENSP00000354923.3:p.Thr2441AspfsTer12
ENST00000619831.5:c.3287dup	ENSP00000479270.2:p.Thr1097AspfsTer12
ENST00000620040.5:c.-62dup	ENSP00000478150.2:n.-62dup
ENST00000680961.1:c.-62dup	ENSP00000506386.1:n.-62dup
ENST00000681646.1:n.980dup
ENST00000681839.1:c.308dup	ENSP00000505228.1:p.Thr104AspfsTer12
ENST00000357033.8:c.7319dup	ENSP00000354923.3:p.Thr2441AspfsTer12
ENST00000358062.6:c.407dup	ENSP00000350765.2:p.Thr137AspfsTer12
ENST00000359836.5:c.-62dup	ENSP00000352894.1:n.-62dup
ENST00000378677.6:c.7307dup	ENSP00000367948.2:p.Thr2437AspfsTer12
ENST00000378707.7:c.-62dup	ENSP00000367979.3:n.-62dup
ENST00000471779.1:c.76dup	ENSP00000417075.1:p.Arg26LysfsTer?
ENST00000474231.5:c.-62dup	ENSP00000417123.1:n.-62dup
ENST00000541735.5:c.-62dup	ENSP00000444119.1:n.-62dup
ENST00000619831.4:c.7304dup	ENSP00000479270.1:p.Thr2436AspfsTer12
ENST00000620040.4:c.7316dup	ENSP00000478150.1:p.Thr2440AspfsTer12
NM_000109.3:c.7295dup	NP_000100.2:p.Thr2433AspfsTer12
NM_004006.2:c.7319dup , LRG_199t1:c.7319dup	NP_003997.1:p.Thr2441AspfsTer12
NM_004009.3:c.7307dup	NP_004000.1:p.Thr2437AspfsTer12
NM_004010.3:c.6950dup	NP_004001.1:p.Thr2318AspfsTer12
NM_004011.3:c.3296dup	NP_004002.2:p.Thr1100AspfsTer12
NM_004012.3:c.3287dup	NP_004003.1:p.Thr1097AspfsTer12
NM_004013.2:c.-62dup	NP_004004.1:n.-62dup
NM_004020.3:c.-62dup	NP_004011.2:n.-62dup
NM_004021.2:c.-62dup	NP_004012.1:n.-62dup
NM_004022.2:c.-62dup	NP_004013.1:n.-62dup
NM_004023.2:c.-62dup	NP_004014.1:n.-62dup
XM_006724468.2:c.7319dup	XP_006724531.1:p.Thr2441AspfsTer12
XM_006724469.2:c.7295dup	XP_006724532.1:p.Thr2433AspfsTer12
XM_006724470.2:c.7319dup	XP_006724533.1:p.Thr2441AspfsTer12
XM_006724471.2:c.7319dup	XP_006724534.1:p.Thr2441AspfsTer12
XM_006724472.2:c.7190dup	XP_006724535.1:p.Thr2398AspfsTer12
XM_006724473.2:c.7181dup	XP_006724536.1:p.Thr2395AspfsTer12
XM_006724474.2:c.7319dup	XP_006724537.1:p.Thr2441AspfsTer12
XM_006724475.2:c.7319dup	XP_006724538.1:p.Thr2441AspfsTer12
XM_011545467.1:c.7196dup	XP_011543769.1:p.Thr2400AspfsTer12
XM_011545468.1:c.7319dup	XP_011543770.1:p.Thr2441AspfsTer12
XM_006724469.3:c.7295dup	XP_006724532.1:p.Thr2433AspfsTer12
XM_006724470.3:c.7319dup	XP_006724533.1:p.Thr2441AspfsTer12
XM_006724474.3:c.7319dup	XP_006724537.1:p.Thr2441AspfsTer12
XM_011545468.2:c.7319dup	XP_011543770.1:p.Thr2441AspfsTer12
XM_017029328.1:c.7319dup	XP_016884817.1:p.Thr2441AspfsTer12
XM_017029331.1:c.1493dup	XP_016884820.1:p.Thr499AspfsTer12
NM_000109.4:c.7295dup	NP_000100.3:p.Thr2433AspfsTer12
NM_004006.3:c.7319dup MANE Select	NP_003997.2:p.Thr2441AspfsTer12
NM_004011.4:c.3296dup	NP_004002.3:p.Thr1100AspfsTer12
NM_004012.4:c.3287dup	NP_004003.2:p.Thr1097AspfsTer12
NM_004021.3:c.-62dup	NP_004012.2:n.-62dup
NM_004023.3:c.-62dup	NP_004014.2:n.-62dup
NM_004013.3:c.-62dup	NP_004004.2:n.-62dup
NM_004020.4:c.-62dup	NP_004011.3:n.-62dup
NM_004022.3:c.-62dup	NP_004013.2:n.-62dup