Canonical Allele Identifier: CA10588764

Gene: DMD

Linked Data

• ClinVar Variation Id: 265606
• ClinVar RCV Id: RCV000255884
• dbSNP Id: rs886039663
• MyVariant Identifiers: chrX:g.31196859del (hg19) ; chrX:g.31178742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31178745del , CM000685.2:g.31178745del	GRCh38
NC_000023.10:g.31196862del , CM000685.1:g.31196862del	GRCh37
NC_000023.9:g.31106783del	NCBI36
NG_012232.1:g.2165868del , LRG_199:g.2165868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4996del	ENSP00000350765.3:p.Arg1666GlyfsTer18
ENST00000475732.3:n.2497del
ENST00000680162.2:c.946del	ENSP00000506634.2:p.Arg316GlyfsTer18
ENST00000680768.2:c.946del	ENSP00000506359.2:p.Arg316GlyfsTer18
ENST00000681989.1:n.948del
ENST00000682238.1:c.2770del	ENSP00000508124.1:p.Arg924GlyfsTer18
ENST00000682322.1:c.946del	ENSP00000507690.1:p.Arg316GlyfsTer18
ENST00000682600.1:c.946del	ENSP00000507640.1:p.Arg316GlyfsTer18
ENST00000682769.1:n.781del
ENST00000683509.1:n.1667del
ENST00000683675.1:n.1249del
ENST00000683709.1:n.1668del
ENST00000683957.1:n.3642del
ENST00000684130.1:c.2770del	ENSP00000508037.1:p.Arg924GlyfsTer18
ENST00000343523.7:c.2005del	ENSP00000340057.4:p.Arg669GlyfsTer18
ENST00000357033.9:c.10150del MANE Select	ENSP00000354923.3:p.Arg3384GlyfsTer18
ENST00000475732.2:n.516del
ENST00000619831.5:c.6118del	ENSP00000479270.2:p.Arg2040GlyfsTer18
ENST00000620040.5:c.2770del	ENSP00000478150.2:p.Arg924GlyfsTer18
ENST00000679641.1:c.*152del	ENSP00000506135.1:n.*152del
ENST00000679706.1:c.107del
ENST00000680162.1:c.823del	ENSP00000506634.1:p.Arg275GlyfsTer18
ENST00000680355.1:c.946del	ENSP00000506257.1:p.Arg316GlyfsTer18
ENST00000680557.1:c.603+25219del	ENSP00000505164.1:n.603+25219del
ENST00000680768.1:c.889del	ENSP00000506359.1:p.Arg297GlyfsTer18
ENST00000680961.1:c.*152del	ENSP00000506386.1:n.*152del
ENST00000681153.1:c.946del	ENSP00000505124.1:p.Arg316GlyfsTer18
ENST00000681654.1:n.1080del
ENST00000343523.6:c.1963del	ENSP00000340057.3:p.Arg655GlyfsTer18
ENST00000357033.8:c.10150del	ENSP00000354923.3:p.Arg3384GlyfsTer18
ENST00000358062.6:c.3238del	ENSP00000350765.2:p.Arg1080GlyfsTer18
ENST00000359836.5:c.2770del	ENSP00000352894.1:p.Arg924GlyfsTer18
ENST00000361471.8:c.946del	ENSP00000354464.4:p.Arg316GlyfsTer18
ENST00000378677.6:c.10138del	ENSP00000367948.2:p.Arg3380GlyfsTer18
ENST00000378680.6:c.946del	ENSP00000367951.2:p.Arg316GlyfsTer18
ENST00000378702.8:c.946del	ENSP00000367974.4:p.Arg316GlyfsTer18
ENST00000378705.3:c.520del	ENSP00000367977.3:p.Arg174GlyfsTer18
ENST00000378707.7:c.2770del	ENSP00000367979.3:p.Arg924GlyfsTer18
ENST00000378723.7:c.946del	ENSP00000367997.3:p.Arg316GlyfsTer18
ENST00000474231.5:c.2770del	ENSP00000417123.1:p.Arg924GlyfsTer18
ENST00000475732.1:n.366del
ENST00000541735.5:c.2770del	ENSP00000444119.1:p.Arg924GlyfsTer18
ENST00000619831.4:c.10135del	ENSP00000479270.1:p.Arg3379GlyfsTer18
ENST00000620040.4:c.10147del	ENSP00000478150.1:p.Arg3383GlyfsTer18
NM_000109.3:c.10126del	NP_000100.2:p.Arg3376GlyfsTer18
NM_004006.2:c.10150del , LRG_199t1:c.10150del	NP_003997.1:p.Arg3384GlyfsTer18
NM_004009.3:c.10138del	NP_004000.1:p.Arg3380GlyfsTer18
NM_004010.3:c.9781del	NP_004001.1:p.Arg3261GlyfsTer18
NM_004011.3:c.6127del	NP_004002.2:p.Arg2043GlyfsTer18
NM_004012.3:c.6118del	NP_004003.1:p.Arg2040GlyfsTer18
NM_004013.2:c.2770del	NP_004004.1:p.Arg924GlyfsTer18
NM_004014.2:c.1963del	NP_004005.1:p.Arg655GlyfsTer18
NM_004015.2:c.946del	NP_004006.1:p.Arg316GlyfsTer18
NM_004016.2:c.946del	NP_004007.1:p.Arg316GlyfsTer18
NM_004017.2:c.946del	NP_004008.1:p.Arg316GlyfsTer18
NM_004018.2:c.946del	NP_004009.1:p.Arg316GlyfsTer18
NM_004019.2:c.946del	NP_004010.1:p.Arg316GlyfsTer18
NM_004020.3:c.2770del	NP_004011.2:p.Arg924GlyfsTer18
NM_004021.2:c.2770del	NP_004012.1:p.Arg924GlyfsTer18
NM_004022.2:c.2770del	NP_004013.1:p.Arg924GlyfsTer18
NM_004023.2:c.2770del	NP_004014.1:p.Arg924GlyfsTer18
XM_006724468.2:c.10150del	XP_006724531.1:p.Arg3384GlyfsTer18
XM_006724469.2:c.10126del	XP_006724532.1:p.Arg3376GlyfsTer18
XM_006724470.2:c.10150del	XP_006724533.1:p.Arg3384GlyfsTer18
XM_006724471.2:c.10150del	XP_006724534.1:p.Arg3384GlyfsTer18
XM_006724472.2:c.10021del	XP_006724535.1:p.Arg3341GlyfsTer18
XM_006724473.2:c.10012del	XP_006724536.1:p.Arg3338GlyfsTer18
XM_006724474.2:c.10150del	XP_006724537.1:p.Arg3384GlyfsTer18
XM_006724475.2:c.10150del	XP_006724538.1:p.Arg3384GlyfsTer18
XM_011545467.1:c.10027del	XP_011543769.1:p.Arg3343GlyfsTer18
XM_006724469.3:c.10126del	XP_006724532.1:p.Arg3376GlyfsTer18
XM_006724470.3:c.10150del	XP_006724533.1:p.Arg3384GlyfsTer18
XM_006724474.3:c.10150del	XP_006724537.1:p.Arg3384GlyfsTer18
XM_017029328.1:c.10150del	XP_016884817.1:p.Arg3384GlyfsTer18
XM_017029331.1:c.4324del	XP_016884820.1:p.Arg1442GlyfsTer18
NM_000109.4:c.10126del	NP_000100.3:p.Arg3376GlyfsTer18
NM_004006.3:c.10150del MANE Select	NP_003997.2:p.Arg3384GlyfsTer18
NM_004011.4:c.6127del	NP_004002.3:p.Arg2043GlyfsTer18
NM_004012.4:c.6118del	NP_004003.2:p.Arg2040GlyfsTer18
NM_004015.3:c.946del	NP_004006.1:p.Arg316GlyfsTer18
NM_004016.3:c.946del	NP_004007.1:p.Arg316GlyfsTer18
NM_004017.3:c.946del	NP_004008.1:p.Arg316GlyfsTer18
NM_004018.3:c.946del	NP_004009.1:p.Arg316GlyfsTer18
NM_004019.3:c.946del	NP_004010.1:p.Arg316GlyfsTer18
NM_004021.3:c.2770del	NP_004012.2:p.Arg924GlyfsTer18
NM_004023.3:c.2770del	NP_004014.2:p.Arg924GlyfsTer18
NM_004013.3:c.2770del	NP_004004.2:p.Arg924GlyfsTer18
NM_004014.3:c.1963del	NP_004005.2:p.Arg655GlyfsTer18
NM_004020.4:c.2770del	NP_004011.3:p.Arg924GlyfsTer18
NM_004022.3:c.2770del	NP_004013.2:p.Arg924GlyfsTer18