Canonical Allele Identifier: CA2739268133

Gene: DMD

Linked Data

• ClinVar Variation Id: 2848372
• ClinVar RCV Id: RCV003623184

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774104del , CM000685.2:g.31774104del	GRCh38
NC_000023.10:g.31792221del , CM000685.1:g.31792221del	GRCh37
NC_000023.9:g.31702142del	NCBI36
NG_012232.1:g.1570506del , LRG_199:g.1570506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2244del	ENSP00000350765.3:p.Met748IlefsTer28
ENST00000682238.1:c.18del	ENSP00000508124.1:p.Met6IlefsTer28
ENST00000683117.1:n.1059del
ENST00000683450.1:n.981del
ENST00000683851.1:n.1059del
ENST00000683957.1:n.890del
ENST00000684130.1:c.18del	ENSP00000508037.1:p.Met6IlefsTer28
ENST00000357033.9:c.7398del MANE Select	ENSP00000354923.3:p.Met2466IlefsTer28
ENST00000619831.5:c.3366del	ENSP00000479270.2:p.Met1122IlefsTer28
ENST00000620040.5:c.18del	ENSP00000478150.2:p.Met6IlefsTer28
ENST00000680961.1:c.18del	ENSP00000506386.1:p.Met6IlefsTer28
ENST00000681646.1:n.1059del
ENST00000681839.1:c.387del	ENSP00000505228.1:p.Met129IlefsTer28
ENST00000357033.8:c.7398del	ENSP00000354923.3:p.Met2466IlefsTer28
ENST00000358062.6:c.486del	ENSP00000350765.2:p.Met162IlefsTer28
ENST00000359836.5:c.18del	ENSP00000352894.1:p.Met6IlefsTer28
ENST00000378677.6:c.7386del	ENSP00000367948.2:p.Met2462IlefsTer28
ENST00000378707.7:c.18del	ENSP00000367979.3:p.Met6IlefsTer28
ENST00000471779.1:c.155del	ENSP00000417075.1:n.155del
ENST00000474231.5:c.18del	ENSP00000417123.1:p.Met6IlefsTer28
ENST00000541735.5:c.18del	ENSP00000444119.1:p.Met6IlefsTer28
ENST00000619831.4:c.7383del	ENSP00000479270.1:p.Met2461IlefsTer28
ENST00000620040.4:c.7395del	ENSP00000478150.1:p.Met2465IlefsTer28
NM_000109.3:c.7374del	NP_000100.2:p.Met2458IlefsTer28
NM_004006.2:c.7398del , LRG_199t1:c.7398del	NP_003997.1:p.Met2466IlefsTer28
NM_004009.3:c.7386del	NP_004000.1:p.Met2462IlefsTer28
NM_004010.3:c.7029del	NP_004001.1:p.Met2343IlefsTer28
NM_004011.3:c.3375del	NP_004002.2:p.Met1125IlefsTer28
NM_004012.3:c.3366del	NP_004003.1:p.Met1122IlefsTer28
NM_004013.2:c.18del	NP_004004.1:p.Met6IlefsTer28
NM_004020.3:c.18del	NP_004011.2:p.Met6IlefsTer28
NM_004021.2:c.18del	NP_004012.1:p.Met6IlefsTer28
NM_004022.2:c.18del	NP_004013.1:p.Met6IlefsTer28
NM_004023.2:c.18del	NP_004014.1:p.Met6IlefsTer28
XM_006724468.2:c.7398del	XP_006724531.1:p.Met2466IlefsTer28
XM_006724469.2:c.7374del	XP_006724532.1:p.Met2458IlefsTer28
XM_006724470.2:c.7398del	XP_006724533.1:p.Met2466IlefsTer28
XM_006724471.2:c.7398del	XP_006724534.1:p.Met2466IlefsTer28
XM_006724472.2:c.7269del	XP_006724535.1:p.Met2423IlefsTer28
XM_006724473.2:c.7260del	XP_006724536.1:p.Met2420IlefsTer28
XM_006724474.2:c.7398del	XP_006724537.1:p.Met2466IlefsTer28
XM_006724475.2:c.7398del	XP_006724538.1:p.Met2466IlefsTer28
XM_011545467.1:c.7275del	XP_011543769.1:p.Met2425IlefsTer28
XM_011545468.1:c.7398del	XP_011543770.1:p.Met2466IlefsTer28
XM_006724469.3:c.7374del	XP_006724532.1:p.Met2458IlefsTer28
XM_006724470.3:c.7398del	XP_006724533.1:p.Met2466IlefsTer28
XM_006724474.3:c.7398del	XP_006724537.1:p.Met2466IlefsTer28
XM_011545468.2:c.7398del	XP_011543770.1:p.Met2466IlefsTer28
XM_017029328.1:c.7398del	XP_016884817.1:p.Met2466IlefsTer28
XM_017029331.1:c.1572del	XP_016884820.1:p.Met524IlefsTer28
NM_000109.4:c.7374del	NP_000100.3:p.Met2458IlefsTer28
NM_004006.3:c.7398del MANE Select	NP_003997.2:p.Met2466IlefsTer28
NM_004011.4:c.3375del	NP_004002.3:p.Met1125IlefsTer28
NM_004012.4:c.3366del	NP_004003.2:p.Met1122IlefsTer28
NM_004021.3:c.18del	NP_004012.2:p.Met6IlefsTer28
NM_004023.3:c.18del	NP_004014.2:p.Met6IlefsTer28
NM_004013.3:c.18del	NP_004004.2:p.Met6IlefsTer28
NM_004020.4:c.18del	NP_004011.3:p.Met6IlefsTer28
NM_004022.3:c.18del	NP_004013.2:p.Met6IlefsTer28