Canonical Allele Identifier: CA2580616928

Gene: DMD

Linked Data

• ClinVar Variation Id: 2504157
• ClinVar RCV Id: RCV003232946

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774026_31774029dup , CM000685.2:g.31774026_31774029dup	GRCh38
NC_000023.10:g.31792143_31792146dup , CM000685.1:g.31792143_31792146dup	GRCh37
NC_000023.9:g.31702064_31702067dup	NCBI36
NG_012232.1:g.1570582_1570585dup , LRG_199:g.1570582_1570585dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2320_2323dup	ENSP00000350765.3:p.Ile775SerfsTer11
ENST00000682238.1:c.94_97dup	ENSP00000508124.1:p.Ile33SerfsTer11
ENST00000683117.1:n.1135_1138dup
ENST00000683450.1:n.1057_1060dup
ENST00000683851.1:n.1135_1138dup
ENST00000683957.1:n.966_969dup
ENST00000684130.1:c.94_97dup	ENSP00000508037.1:p.Ile33SerfsTer11
ENST00000357033.9:c.7474_7477dup MANE Select	ENSP00000354923.3:p.Ile2493SerfsTer11
ENST00000619831.5:c.3442_3445dup	ENSP00000479270.2:p.Ile1149SerfsTer11
ENST00000620040.5:c.94_97dup	ENSP00000478150.2:p.Ile33SerfsTer11
ENST00000680961.1:c.94_97dup	ENSP00000506386.1:p.Ile33SerfsTer11
ENST00000681646.1:n.1135_1138dup
ENST00000681839.1:c.463_466dup	ENSP00000505228.1:p.Ile156SerfsTer11
ENST00000357033.8:c.7474_7477dup	ENSP00000354923.3:p.Ile2493SerfsTer11
ENST00000358062.6:c.562_565dup	ENSP00000350765.2:p.Ile189SerfsTer11
ENST00000359836.5:c.94_97dup	ENSP00000352894.1:p.Ile33SerfsTer11
ENST00000378677.6:c.7462_7465dup	ENSP00000367948.2:p.Ile2489SerfsTer11
ENST00000378707.7:c.94_97dup	ENSP00000367979.3:p.Ile33SerfsTer11
ENST00000471779.1:c.231_234dup	ENSP00000417075.1:n.231_234dup
ENST00000474231.5:c.94_97dup	ENSP00000417123.1:p.Ile33SerfsTer11
ENST00000541735.5:c.94_97dup	ENSP00000444119.1:p.Ile33SerfsTer11
ENST00000619831.4:c.7459_7462dup	ENSP00000479270.1:p.Ile2488SerfsTer11
ENST00000620040.4:c.7471_7474dup	ENSP00000478150.1:p.Ile2492SerfsTer11
NM_000109.3:c.7450_7453dup	NP_000100.2:p.Ile2485SerfsTer11
NM_004006.2:c.7474_7477dup , LRG_199t1:c.7474_7477dup	NP_003997.1:p.Ile2493SerfsTer11
NM_004009.3:c.7462_7465dup	NP_004000.1:p.Ile2489SerfsTer11
NM_004010.3:c.7105_7108dup	NP_004001.1:p.Ile2370SerfsTer11
NM_004011.3:c.3451_3454dup	NP_004002.2:p.Ile1152SerfsTer11
NM_004012.3:c.3442_3445dup	NP_004003.1:p.Ile1149SerfsTer11
NM_004013.2:c.94_97dup	NP_004004.1:p.Ile33SerfsTer11
NM_004020.3:c.94_97dup	NP_004011.2:p.Ile33SerfsTer11
NM_004021.2:c.94_97dup	NP_004012.1:p.Ile33SerfsTer11
NM_004022.2:c.94_97dup	NP_004013.1:p.Ile33SerfsTer11
NM_004023.2:c.94_97dup	NP_004014.1:p.Ile33SerfsTer11
XM_006724468.2:c.7474_7477dup	XP_006724531.1:p.Ile2493SerfsTer11
XM_006724469.2:c.7450_7453dup	XP_006724532.1:p.Ile2485SerfsTer11
XM_006724470.2:c.7474_7477dup	XP_006724533.1:p.Ile2493SerfsTer11
XM_006724471.2:c.7474_7477dup	XP_006724534.1:p.Ile2493SerfsTer11
XM_006724472.2:c.7345_7348dup	XP_006724535.1:p.Ile2450SerfsTer11
XM_006724473.2:c.7336_7339dup	XP_006724536.1:p.Ile2447SerfsTer11
XM_006724474.2:c.7474_7477dup	XP_006724537.1:p.Ile2493SerfsTer11
XM_006724475.2:c.7474_7477dup	XP_006724538.1:p.Ile2493SerfsTer11
XM_011545467.1:c.7351_7354dup	XP_011543769.1:p.Ile2452SerfsTer11
XM_011545468.1:c.7474_7477dup	XP_011543770.1:p.Ile2493SerfsTer11
XM_006724469.3:c.7450_7453dup	XP_006724532.1:p.Ile2485SerfsTer11
XM_006724470.3:c.7474_7477dup	XP_006724533.1:p.Ile2493SerfsTer11
XM_006724474.3:c.7474_7477dup	XP_006724537.1:p.Ile2493SerfsTer11
XM_011545468.2:c.7474_7477dup	XP_011543770.1:p.Ile2493SerfsTer11
XM_017029328.1:c.7474_7477dup	XP_016884817.1:p.Ile2493SerfsTer11
XM_017029331.1:c.1648_1651dup	XP_016884820.1:p.Ile551SerfsTer11
NM_000109.4:c.7450_7453dup	NP_000100.3:p.Ile2485SerfsTer11
NM_004006.3:c.7474_7477dup MANE Select	NP_003997.2:p.Ile2493SerfsTer11
NM_004011.4:c.3451_3454dup	NP_004002.3:p.Ile1152SerfsTer11
NM_004012.4:c.3442_3445dup	NP_004003.2:p.Ile1149SerfsTer11
NM_004021.3:c.94_97dup	NP_004012.2:p.Ile33SerfsTer11
NM_004023.3:c.94_97dup	NP_004014.2:p.Ile33SerfsTer11
NM_004013.3:c.94_97dup	NP_004004.2:p.Ile33SerfsTer11
NM_004020.4:c.94_97dup	NP_004011.3:p.Ile33SerfsTer11
NM_004022.3:c.94_97dup	NP_004013.2:p.Ile33SerfsTer11