Canonical Allele Identifier: CA10653889

Gene: DMD

Linked Data

• ClinVar Variation Id: 368204
• ClinVar RCV Id: RCV000274242
• dbSNP Id: rs1057515855
• gnomAD v2: X-31138001-G-GAATT
• gnomAD v3: X-31119884-G-GAATT
• gnomAD v4: X-31119884-G-GAATT
• MyVariant Identifiers: chrX:g.31138002_31138005dupAATT (hg19) ; chrX:g.31138001_31138002insAATT (hg19) ; chrX:g.31119885_31119888dupAATT (hg38) ; chrX:g.31119884_31119885insAATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31119886_31119889dup , CM000685.2:g.31119886_31119889dup	GRCh38
NC_000023.10:g.31138003_31138006dup , CM000685.1:g.31138003_31138006dup	GRCh37
NC_000023.9:g.31047924_31047927dup	NCBI36
NG_012232.1:g.2224722_2224725dup , LRG_199:g.2224722_2224725dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.7864_7867dup	ENSP00000350765.3:n.7864_7867dup
ENST00000680162.2:c.*1945_*1948dup	ENSP00000506634.2:n.*1945_*1948dup
ENST00000681989.1:n.3855_3858dup
ENST00000682238.1:c.*1945_*1948dup	ENSP00000508124.1:n.*1945_*1948dup
ENST00000682322.1:c.*2031_*2034dup	ENSP00000507690.1:n.*2031_*2034dup
ENST00000682600.1:c.*2031_*2034dup	ENSP00000507640.1:n.*2031_*2034dup
ENST00000683675.1:n.4188_4191dup
ENST00000684072.1:n.3318_3321dup
ENST00000684130.1:c.*2031_*2034dup	ENSP00000508037.1:n.*2031_*2034dup
ENST00000343523.7:c.*2031_*2034dup	ENSP00000340057.4:n.*2031_*2034dup
ENST00000357033.9:c.*2031_*2034dup MANE Select	ENSP00000354923.3:n.*2031_*2034dup
ENST00000619831.5:c.*2031_*2034dup	ENSP00000479270.2:n.*2031_*2034dup
ENST00000620040.5:c.*1945_*1948dup	ENSP00000478150.2:n.*1945_*1948dup
ENST00000679437.1:c.*1945_*1948dup	ENSP00000506629.1:n.*1945_*1948dup
ENST00000679482.1:n.2631_2634dup
ENST00000679641.1:c.*2729_*2732dup	ENSP00000506135.1:n.*2729_*2732dup
ENST00000679669.1:n.2199_2202dup
ENST00000679850.1:n.8100_8103dup
ENST00000680162.1:c.*1945_*1948dup	ENSP00000506634.1:n.*1945_*1948dup
ENST00000680355.1:c.*2031_*2034dup	ENSP00000506257.1:n.*2031_*2034dup
ENST00000680557.1:c.*2088_*2091dup	ENSP00000505164.1:n.*2088_*2091dup
ENST00000680701.1:n.2864_2867dup
ENST00000680961.1:c.*3020_*3023dup	ENSP00000506386.1:n.*3020_*3023dup
ENST00000681026.1:c.*1945_*1948dup	ENSP00000506689.1:n.*1945_*1948dup
ENST00000343523.6:c.*2031_*2034dup	ENSP00000340057.3:n.*2031_*2034dup
ENST00000357033.8:c.*2031_*2034dup	ENSP00000354923.3:n.*2031_*2034dup
ENST00000358062.6:c.6106_6109dup	ENSP00000350765.2:n.6106_6109dup
ENST00000359836.5:c.*1945_*1948dup	ENSP00000352894.1:n.*1945_*1948dup
ENST00000378677.6:c.*2031_*2034dup	ENSP00000367948.2:n.*2031_*2034dup
ENST00000378707.7:c.*2031_*2034dup	ENSP00000367979.3:n.*2031_*2034dup
ENST00000378723.7:c.*1945_*1948dup	ENSP00000367997.3:n.*1945_*1948dup
ENST00000481143.2:n.115-21705_115-21702dup
ENST00000541735.5:c.*2031_*2034dup	ENSP00000444119.1:n.*2031_*2034dup
ENST00000619831.4:c.13074_13077dup	ENSP00000479270.1:n.13074_13077dup
ENST00000620040.4:c.13086_13089dup	ENSP00000478150.1:n.13086_13089dup
NM_000109.3:c.*2031_*2034dup	NP_000100.2:n.*2031_*2034dup
NM_004006.2:c.*2031_*2034dup , LRG_199t1:c.*2031_*2034dup	NP_003997.1:n.*2031_*2034dup
NM_004009.3:c.*2031_*2034dup	NP_004000.1:n.*2031_*2034dup
NM_004010.3:c.*2031_*2034dup	NP_004001.1:n.*2031_*2034dup
NM_004011.3:c.*2031_*2034dup	NP_004002.2:n.*2031_*2034dup
NM_004012.3:c.*2031_*2034dup	NP_004003.1:n.*2031_*2034dup
NM_004013.2:c.*2031_*2034dup	NP_004004.1:n.*2031_*2034dup
NM_004014.2:c.*2031_*2034dup	NP_004005.1:n.*2031_*2034dup
NM_004015.2:c.*2031_*2034dup	NP_004006.1:n.*2031_*2034dup
NM_004016.2:c.*1945_*1948dup	NP_004007.1:n.*1945_*1948dup
NM_004017.2:c.*2031_*2034dup	NP_004008.1:n.*2031_*2034dup
NM_004018.2:c.*1945_*1948dup	NP_004009.1:n.*1945_*1948dup
NM_004020.3:c.*2031_*2034dup	NP_004011.2:n.*2031_*2034dup
NM_004021.2:c.*1945_*1948dup	NP_004012.1:n.*1945_*1948dup
NM_004022.2:c.*1945_*1948dup	NP_004013.1:n.*1945_*1948dup
NM_004023.2:c.*1945_*1948dup	NP_004014.1:n.*1945_*1948dup
XM_006724468.2:c.*1945_*1948dup	XP_006724531.1:n.*1945_*1948dup
XM_006724469.2:c.*1945_*1948dup	XP_006724532.1:n.*1945_*1948dup
XM_006724470.2:c.*1945_*1948dup	XP_006724533.1:n.*1945_*1948dup
XM_006724471.2:c.*1945_*1948dup	XP_006724534.1:n.*1945_*1948dup
XM_006724472.2:c.*1945_*1948dup	XP_006724535.1:n.*1945_*1948dup
XM_006724473.2:c.*1945_*1948dup	XP_006724536.1:n.*1945_*1948dup
XM_006724474.2:c.*1945_*1948dup	XP_006724537.1:n.*1945_*1948dup
XM_006724475.2:c.*2031_*2034dup	XP_006724538.1:n.*2031_*2034dup
XM_011545467.1:c.*1945_*1948dup	XP_011543769.1:n.*1945_*1948dup
XM_006724469.3:c.*1945_*1948dup	XP_006724532.1:n.*1945_*1948dup
XM_006724470.3:c.*1945_*1948dup	XP_006724533.1:n.*1945_*1948dup
XM_006724474.3:c.*1945_*1948dup	XP_006724537.1:n.*1945_*1948dup
XM_017029328.1:c.*2031_*2034dup	XP_016884817.1:n.*2031_*2034dup
XM_017029331.1:c.*1945_*1948dup	XP_016884820.1:n.*1945_*1948dup
NM_000109.4:c.*2031_*2034dup	NP_000100.3:n.*2031_*2034dup
NM_004006.3:c.*2031_*2034dup MANE Select	NP_003997.2:n.*2031_*2034dup
NM_004011.4:c.*2031_*2034dup	NP_004002.3:n.*2031_*2034dup
NM_004012.4:c.*2031_*2034dup	NP_004003.2:n.*2031_*2034dup
NM_004015.3:c.*2031_*2034dup	NP_004006.1:n.*2031_*2034dup
NM_004016.3:c.*1945_*1948dup	NP_004007.1:n.*1945_*1948dup
NM_004017.3:c.*2031_*2034dup	NP_004008.1:n.*2031_*2034dup
NM_004018.3:c.*1945_*1948dup	NP_004009.1:n.*1945_*1948dup
NM_004021.3:c.*1945_*1948dup	NP_004012.2:n.*1945_*1948dup
NM_004023.3:c.*1945_*1948dup	NP_004014.2:n.*1945_*1948dup
NM_004013.3:c.*2031_*2034dup	NP_004004.2:n.*2031_*2034dup
NM_004014.3:c.*2031_*2034dup	NP_004005.2:n.*2031_*2034dup
NM_004020.4:c.*2031_*2034dup	NP_004011.3:n.*2031_*2034dup
NM_004022.3:c.*1945_*1948dup	NP_004013.2:n.*1945_*1948dup