Canonical Allele Identifier: CA2695231865

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31478328_31478332delinsCCT , CM000685.2:g.31478328_31478332delinsCCT	GRCh38
NC_000023.10:g.31496445_31496449delinsCCT , CM000685.1:g.31496445_31496449delinsCCT	GRCh37
NC_000023.9:g.31406366_31406370delinsCCT	NCBI36
NG_012232.1:g.1866278_1866282delinsAGG , LRG_199:g.1866278_1866282delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3557_3561delinsAGG	ENSP00000350765.3:p.Leu1186GlnfsTer5
ENST00000682238.1:c.1331_1335delinsAGG	ENSP00000508124.1:p.Leu444GlnfsTer5
ENST00000683450.1:n.2176_2180delinsAGG
ENST00000683957.1:n.2203_2207delinsAGG
ENST00000684130.1:c.1331_1335delinsAGG	ENSP00000508037.1:p.Leu444GlnfsTer5
ENST00000343523.7:c.566_570delinsAGG	ENSP00000340057.4:p.Leu189GlnfsTer5
ENST00000357033.9:c.8711_8715delinsAGG MANE Select	ENSP00000354923.3:p.Leu2904GlnfsTer5
ENST00000619831.5:c.4679_4683delinsAGG	ENSP00000479270.2:p.Leu1560GlnfsTer5
ENST00000620040.5:c.1331_1335delinsAGG	ENSP00000478150.2:p.Leu444GlnfsTer5
ENST00000680961.1:c.1331_1335delinsAGG	ENSP00000506386.1:p.Leu444GlnfsTer5
ENST00000681646.1:n.2372_2376delinsAGG
ENST00000343523.6:c.524_528delinsAGG	ENSP00000340057.3:p.Leu175GlnfsTer5
ENST00000357033.8:c.8711_8715delinsAGG	ENSP00000354923.3:p.Leu2904GlnfsTer5
ENST00000358062.6:c.1799_1803delinsAGG	ENSP00000350765.2:p.Leu600GlnfsTer5
ENST00000359836.5:c.1331_1335delinsAGG	ENSP00000352894.1:p.Leu444GlnfsTer5
ENST00000378677.6:c.8699_8703delinsAGG	ENSP00000367948.2:p.Leu2900GlnfsTer5
ENST00000378707.7:c.1331_1335delinsAGG	ENSP00000367979.3:p.Leu444GlnfsTer5
ENST00000445312.1:n.768_772delinsAGG
ENST00000474231.5:c.1331_1335delinsAGG	ENSP00000417123.1:p.Leu444GlnfsTer5
ENST00000541735.5:c.1331_1335delinsAGG	ENSP00000444119.1:p.Leu444GlnfsTer5
ENST00000619831.4:c.8696_8700delinsAGG	ENSP00000479270.1:p.Leu2899GlnfsTer5
ENST00000620040.4:c.8708_8712delinsAGG	ENSP00000478150.1:p.Leu2903GlnfsTer5
NM_000109.3:c.8687_8691delinsAGG	NP_000100.2:p.Leu2896GlnfsTer5
NM_004006.2:c.8711_8715delinsAGG , LRG_199t1:c.8711_8715delinsAGG	NP_003997.1:p.Leu2904GlnfsTer5
NM_004009.3:c.8699_8703delinsAGG	NP_004000.1:p.Leu2900GlnfsTer5
NM_004010.3:c.8342_8346delinsAGG	NP_004001.1:p.Leu2781GlnfsTer5
NM_004011.3:c.4688_4692delinsAGG	NP_004002.2:p.Leu1563GlnfsTer5
NM_004012.3:c.4679_4683delinsAGG	NP_004003.1:p.Leu1560GlnfsTer5
NM_004013.2:c.1331_1335delinsAGG	NP_004004.1:p.Leu444GlnfsTer5
NM_004014.2:c.524_528delinsAGG	NP_004005.1:p.Leu175GlnfsTer5
NM_004020.3:c.1331_1335delinsAGG	NP_004011.2:p.Leu444GlnfsTer5
NM_004021.2:c.1331_1335delinsAGG	NP_004012.1:p.Leu444GlnfsTer5
NM_004022.2:c.1331_1335delinsAGG	NP_004013.1:p.Leu444GlnfsTer5
NM_004023.2:c.1331_1335delinsAGG	NP_004014.1:p.Leu444GlnfsTer5
XM_006724468.2:c.8711_8715delinsAGG	XP_006724531.1:p.Leu2904GlnfsTer5
XM_006724469.2:c.8687_8691delinsAGG	XP_006724532.1:p.Leu2896GlnfsTer5
XM_006724470.2:c.8711_8715delinsAGG	XP_006724533.1:p.Leu2904GlnfsTer5
XM_006724471.2:c.8711_8715delinsAGG	XP_006724534.1:p.Leu2904GlnfsTer5
XM_006724472.2:c.8582_8586delinsAGG	XP_006724535.1:p.Leu2861GlnfsTer5
XM_006724473.2:c.8573_8577delinsAGG	XP_006724536.1:p.Leu2858GlnfsTer5
XM_006724474.2:c.8711_8715delinsAGG	XP_006724537.1:p.Leu2904GlnfsTer5
XM_006724475.2:c.8711_8715delinsAGG	XP_006724538.1:p.Leu2904GlnfsTer5
XM_011545467.1:c.8588_8592delinsAGG	XP_011543769.1:p.Leu2863GlnfsTer5
XM_011545468.1:c.8711_8715delinsAGG	XP_011543770.1:p.Leu2904GlnfsTer5
XM_006724469.3:c.8687_8691delinsAGG	XP_006724532.1:p.Leu2896GlnfsTer5
XM_006724470.3:c.8711_8715delinsAGG	XP_006724533.1:p.Leu2904GlnfsTer5
XM_006724474.3:c.8711_8715delinsAGG	XP_006724537.1:p.Leu2904GlnfsTer5
XM_011545468.2:c.8711_8715delinsAGG	XP_011543770.1:p.Leu2904GlnfsTer5
XM_017029328.1:c.8711_8715delinsAGG	XP_016884817.1:p.Leu2904GlnfsTer5
XM_017029331.1:c.2885_2889delinsAGG	XP_016884820.1:p.Leu962GlnfsTer5
NM_000109.4:c.8687_8691delinsAGG	NP_000100.3:p.Leu2896GlnfsTer5
NM_004006.3:c.8711_8715delinsAGG MANE Select	NP_003997.2:p.Leu2904GlnfsTer5
NM_004011.4:c.4688_4692delinsAGG	NP_004002.3:p.Leu1563GlnfsTer5
NM_004012.4:c.4679_4683delinsAGG	NP_004003.2:p.Leu1560GlnfsTer5
NM_004021.3:c.1331_1335delinsAGG	NP_004012.2:p.Leu444GlnfsTer5
NM_004023.3:c.1331_1335delinsAGG	NP_004014.2:p.Leu444GlnfsTer5
NM_004013.3:c.1331_1335delinsAGG	NP_004004.2:p.Leu444GlnfsTer5
NM_004014.3:c.524_528delinsAGG	NP_004005.2:p.Leu175GlnfsTer5
NM_004020.4:c.1331_1335delinsAGG	NP_004011.3:p.Leu444GlnfsTer5
NM_004022.3:c.1331_1335delinsAGG	NP_004013.2:p.Leu444GlnfsTer5