Canonical Allele Identifier: CA10604751

Gene: DMD

Linked Data

• ClinVar Variation Id: 284288
• ClinVar RCV Id: RCV000312055 ; RCV000395439 ; RCV000725426 ; RCV002503990
• dbSNP Id: rs886042840
• MyVariant Identifiers: chrX:g.31196906_31196908del (hg19) ; chrX:g.31178789_31178791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31178792_31178794del , CM000685.2:g.31178792_31178794del	GRCh38
NC_000023.10:g.31196909_31196911del , CM000685.1:g.31196909_31196911del	GRCh37
NC_000023.9:g.31106830_31106832del	NCBI36
NG_012232.1:g.2165819_2165821del , LRG_199:g.2165819_2165821del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.4947_4949del	ENSP00000350765.3:p.Glu1649del
ENST00000475732.3:n.2448_2450del
ENST00000680162.2:c.897_899del	ENSP00000506634.2:p.Glu299del
ENST00000680768.2:c.897_899del	ENSP00000506359.2:p.Glu299del
ENST00000681989.1:n.899_901del
ENST00000682238.1:c.2721_2723del	ENSP00000508124.1:p.Glu907del
ENST00000682322.1:c.897_899del	ENSP00000507690.1:p.Glu299del
ENST00000682600.1:c.897_899del	ENSP00000507640.1:p.Glu299del
ENST00000682769.1:n.732_734del
ENST00000683509.1:n.1618_1620del
ENST00000683675.1:n.1200_1202del
ENST00000683709.1:n.1619_1621del
ENST00000683957.1:n.3593_3595del
ENST00000684130.1:c.2721_2723del	ENSP00000508037.1:p.Glu907del
ENST00000343523.7:c.1956_1958del	ENSP00000340057.4:p.Glu652del
ENST00000357033.9:c.10101_10103del MANE Select	ENSP00000354923.3:p.Glu3367del
ENST00000475732.2:n.467_469del
ENST00000619831.5:c.6069_6071del	ENSP00000479270.2:p.Glu2023del
ENST00000620040.5:c.2721_2723del	ENSP00000478150.2:p.Glu907del
ENST00000679641.1:c.*103_*105del	ENSP00000506135.1:n.*103_*105del
ENST00000679706.1:c.58_60del
ENST00000680162.1:c.774_776del	ENSP00000506634.1:p.Glu258del
ENST00000680355.1:c.897_899del	ENSP00000506257.1:p.Glu299del
ENST00000680557.1:c.603+25170_603+25172del	ENSP00000505164.1:n.603+25170_603+25172de...
ENST00000680768.1:c.840_842del	ENSP00000506359.1:p.Glu280del
ENST00000680961.1:c.*103_*105del	ENSP00000506386.1:n.*103_*105del
ENST00000681153.1:c.897_899del	ENSP00000505124.1:p.Glu299del
ENST00000681654.1:n.1031_1033del
ENST00000343523.6:c.1914_1916del	ENSP00000340057.3:p.Glu638del
ENST00000357033.8:c.10101_10103del	ENSP00000354923.3:p.Glu3367del
ENST00000358062.6:c.3189_3191del	ENSP00000350765.2:p.Glu1063del
ENST00000359836.5:c.2721_2723del	ENSP00000352894.1:p.Glu907del
ENST00000361471.8:c.897_899del	ENSP00000354464.4:p.Glu299del
ENST00000378677.6:c.10089_10091del	ENSP00000367948.2:p.Glu3363del
ENST00000378680.6:c.897_899del	ENSP00000367951.2:p.Glu299del
ENST00000378702.8:c.897_899del	ENSP00000367974.4:p.Glu299del
ENST00000378705.3:c.471_473del	ENSP00000367977.3:p.Glu157del
ENST00000378707.7:c.2721_2723del	ENSP00000367979.3:p.Glu907del
ENST00000378723.7:c.897_899del	ENSP00000367997.3:p.Glu299del
ENST00000474231.5:c.2721_2723del	ENSP00000417123.1:p.Glu907del
ENST00000475732.1:n.317_319del
ENST00000541735.5:c.2721_2723del	ENSP00000444119.1:p.Glu907del
ENST00000619831.4:c.10086_10088del	ENSP00000479270.1:p.Glu3362del
ENST00000620040.4:c.10098_10100del	ENSP00000478150.1:p.Glu3366del
NM_000109.3:c.10077_10079del	NP_000100.2:p.Glu3359del
NM_004006.2:c.10101_10103del , LRG_199t1:c.10101_10103del	NP_003997.1:p.Glu3367del
NM_004009.3:c.10089_10091del	NP_004000.1:p.Glu3363del
NM_004010.3:c.9732_9734del	NP_004001.1:p.Glu3244del
NM_004011.3:c.6078_6080del	NP_004002.2:p.Glu2026del
NM_004012.3:c.6069_6071del	NP_004003.1:p.Glu2023del
NM_004013.2:c.2721_2723del	NP_004004.1:p.Glu907del
NM_004014.2:c.1914_1916del	NP_004005.1:p.Glu638del
NM_004015.2:c.897_899del	NP_004006.1:p.Glu299del
NM_004016.2:c.897_899del	NP_004007.1:p.Glu299del
NM_004017.2:c.897_899del	NP_004008.1:p.Glu299del
NM_004018.2:c.897_899del	NP_004009.1:p.Glu299del
NM_004019.2:c.897_899del	NP_004010.1:p.Glu299del
NM_004020.3:c.2721_2723del	NP_004011.2:p.Glu907del
NM_004021.2:c.2721_2723del	NP_004012.1:p.Glu907del
NM_004022.2:c.2721_2723del	NP_004013.1:p.Glu907del
NM_004023.2:c.2721_2723del	NP_004014.1:p.Glu907del
XM_006724468.2:c.10101_10103del	XP_006724531.1:p.Glu3367del
XM_006724469.2:c.10077_10079del	XP_006724532.1:p.Glu3359del
XM_006724470.2:c.10101_10103del	XP_006724533.1:p.Glu3367del
XM_006724471.2:c.10101_10103del	XP_006724534.1:p.Glu3367del
XM_006724472.2:c.9972_9974del	XP_006724535.1:p.Glu3324del
XM_006724473.2:c.9963_9965del	XP_006724536.1:p.Glu3321del
XM_006724474.2:c.10101_10103del	XP_006724537.1:p.Glu3367del
XM_006724475.2:c.10101_10103del	XP_006724538.1:p.Glu3367del
XM_011545467.1:c.9978_9980del	XP_011543769.1:p.Glu3326del
XM_006724469.3:c.10077_10079del	XP_006724532.1:p.Glu3359del
XM_006724470.3:c.10101_10103del	XP_006724533.1:p.Glu3367del
XM_006724474.3:c.10101_10103del	XP_006724537.1:p.Glu3367del
XM_017029328.1:c.10101_10103del	XP_016884817.1:p.Glu3367del
XM_017029331.1:c.4275_4277del	XP_016884820.1:p.Glu1425del
NM_000109.4:c.10077_10079del	NP_000100.3:p.Glu3359del
NM_004006.3:c.10101_10103del MANE Select	NP_003997.2:p.Glu3367del
NM_004011.4:c.6078_6080del	NP_004002.3:p.Glu2026del
NM_004012.4:c.6069_6071del	NP_004003.2:p.Glu2023del
NM_004015.3:c.897_899del	NP_004006.1:p.Glu299del
NM_004016.3:c.897_899del	NP_004007.1:p.Glu299del
NM_004017.3:c.897_899del	NP_004008.1:p.Glu299del
NM_004018.3:c.897_899del	NP_004009.1:p.Glu299del
NM_004019.3:c.897_899del	NP_004010.1:p.Glu299del
NM_004021.3:c.2721_2723del	NP_004012.2:p.Glu907del
NM_004023.3:c.2721_2723del	NP_004014.2:p.Glu907del
NM_004013.3:c.2721_2723del	NP_004004.2:p.Glu907del
NM_004014.3:c.1914_1916del	NP_004005.2:p.Glu638del
NM_004020.4:c.2721_2723del	NP_004011.3:p.Glu907del
NM_004022.3:c.2721_2723del	NP_004013.2:p.Glu907del