Canonical Allele Identifier: CA2695232442

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774051_31774055delinsAGA , CM000685.2:g.31774051_31774055delinsAGA	GRCh38
NC_000023.10:g.31792168_31792172delinsAGA , CM000685.1:g.31792168_31792172delinsAGA	GRCh37
NC_000023.9:g.31702089_31702093delinsAGA	NCBI36
NG_012232.1:g.1570555_1570559delinsTCT , LRG_199:g.1570555_1570559delinsTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2293_2297delinsTCT	ENSP00000350765.3:p.Thr765SerfsTer7
ENST00000682238.1:c.67_71delinsTCT	ENSP00000508124.1:p.Thr23SerfsTer7
ENST00000683117.1:n.1108_1112delinsTCT
ENST00000683450.1:n.1030_1034delinsTCT
ENST00000683851.1:n.1108_1112delinsTCT
ENST00000683957.1:n.939_943delinsTCT
ENST00000684130.1:c.67_71delinsTCT	ENSP00000508037.1:p.Thr23SerfsTer7
ENST00000357033.9:c.7447_7451delinsTCT MANE Select	ENSP00000354923.3:p.Thr2483SerfsTer7
ENST00000619831.5:c.3415_3419delinsTCT	ENSP00000479270.2:p.Thr1139SerfsTer7
ENST00000620040.5:c.67_71delinsTCT	ENSP00000478150.2:p.Thr23SerfsTer7
ENST00000680961.1:c.67_71delinsTCT	ENSP00000506386.1:p.Thr23SerfsTer7
ENST00000681646.1:n.1108_1112delinsTCT
ENST00000681839.1:c.436_440delinsTCT	ENSP00000505228.1:p.Thr146SerfsTer7
ENST00000357033.8:c.7447_7451delinsTCT	ENSP00000354923.3:p.Thr2483SerfsTer7
ENST00000358062.6:c.535_539delinsTCT	ENSP00000350765.2:p.Thr179SerfsTer7
ENST00000359836.5:c.67_71delinsTCT	ENSP00000352894.1:p.Thr23SerfsTer7
ENST00000378677.6:c.7435_7439delinsTCT	ENSP00000367948.2:p.Thr2479SerfsTer7
ENST00000378707.7:c.67_71delinsTCT	ENSP00000367979.3:p.Thr23SerfsTer7
ENST00000471779.1:c.204_208delinsTCT	ENSP00000417075.1:n.204_208delinsTCT
ENST00000474231.5:c.67_71delinsTCT	ENSP00000417123.1:p.Thr23SerfsTer7
ENST00000541735.5:c.67_71delinsTCT	ENSP00000444119.1:p.Thr23SerfsTer7
ENST00000619831.4:c.7432_7436delinsTCT	ENSP00000479270.1:p.Thr2478SerfsTer7
ENST00000620040.4:c.7444_7448delinsTCT	ENSP00000478150.1:p.Thr2482SerfsTer7
NM_000109.3:c.7423_7427delinsTCT	NP_000100.2:p.Thr2475SerfsTer7
NM_004006.2:c.7447_7451delinsTCT , LRG_199t1:c.7447_7451delinsTCT	NP_003997.1:p.Thr2483SerfsTer7
NM_004009.3:c.7435_7439delinsTCT	NP_004000.1:p.Thr2479SerfsTer7
NM_004010.3:c.7078_7082delinsTCT	NP_004001.1:p.Thr2360SerfsTer7
NM_004011.3:c.3424_3428delinsTCT	NP_004002.2:p.Thr1142SerfsTer7
NM_004012.3:c.3415_3419delinsTCT	NP_004003.1:p.Thr1139SerfsTer7
NM_004013.2:c.67_71delinsTCT	NP_004004.1:p.Thr23SerfsTer7
NM_004020.3:c.67_71delinsTCT	NP_004011.2:p.Thr23SerfsTer7
NM_004021.2:c.67_71delinsTCT	NP_004012.1:p.Thr23SerfsTer7
NM_004022.2:c.67_71delinsTCT	NP_004013.1:p.Thr23SerfsTer7
NM_004023.2:c.67_71delinsTCT	NP_004014.1:p.Thr23SerfsTer7
XM_006724468.2:c.7447_7451delinsTCT	XP_006724531.1:p.Thr2483SerfsTer7
XM_006724469.2:c.7423_7427delinsTCT	XP_006724532.1:p.Thr2475SerfsTer7
XM_006724470.2:c.7447_7451delinsTCT	XP_006724533.1:p.Thr2483SerfsTer7
XM_006724471.2:c.7447_7451delinsTCT	XP_006724534.1:p.Thr2483SerfsTer7
XM_006724472.2:c.7318_7322delinsTCT	XP_006724535.1:p.Thr2440SerfsTer7
XM_006724473.2:c.7309_7313delinsTCT	XP_006724536.1:p.Thr2437SerfsTer7
XM_006724474.2:c.7447_7451delinsTCT	XP_006724537.1:p.Thr2483SerfsTer7
XM_006724475.2:c.7447_7451delinsTCT	XP_006724538.1:p.Thr2483SerfsTer7
XM_011545467.1:c.7324_7328delinsTCT	XP_011543769.1:p.Thr2442SerfsTer7
XM_011545468.1:c.7447_7451delinsTCT	XP_011543770.1:p.Thr2483SerfsTer7
XM_006724469.3:c.7423_7427delinsTCT	XP_006724532.1:p.Thr2475SerfsTer7
XM_006724470.3:c.7447_7451delinsTCT	XP_006724533.1:p.Thr2483SerfsTer7
XM_006724474.3:c.7447_7451delinsTCT	XP_006724537.1:p.Thr2483SerfsTer7
XM_011545468.2:c.7447_7451delinsTCT	XP_011543770.1:p.Thr2483SerfsTer7
XM_017029328.1:c.7447_7451delinsTCT	XP_016884817.1:p.Thr2483SerfsTer7
XM_017029331.1:c.1621_1625delinsTCT	XP_016884820.1:p.Thr541SerfsTer7
NM_000109.4:c.7423_7427delinsTCT	NP_000100.3:p.Thr2475SerfsTer7
NM_004006.3:c.7447_7451delinsTCT MANE Select	NP_003997.2:p.Thr2483SerfsTer7
NM_004011.4:c.3424_3428delinsTCT	NP_004002.3:p.Thr1142SerfsTer7
NM_004012.4:c.3415_3419delinsTCT	NP_004003.2:p.Thr1139SerfsTer7
NM_004021.3:c.67_71delinsTCT	NP_004012.2:p.Thr23SerfsTer7
NM_004023.3:c.67_71delinsTCT	NP_004014.2:p.Thr23SerfsTer7
NM_004013.3:c.67_71delinsTCT	NP_004004.2:p.Thr23SerfsTer7
NM_004020.4:c.67_71delinsTCT	NP_004011.3:p.Thr23SerfsTer7
NM_004022.3:c.67_71delinsTCT	NP_004013.2:p.Thr23SerfsTer7