Canonical Allele Identifier: CA2695232457

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774111_31774114del , CM000685.2:g.31774111_31774114del	GRCh38
NC_000023.10:g.31792228_31792231del , CM000685.1:g.31792228_31792231del	GRCh37
NC_000023.9:g.31702149_31702152del	NCBI36
NG_012232.1:g.1570499_1570502del , LRG_199:g.1570499_1570502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2237_2240del	ENSP00000350765.3:p.Ser746Ter
ENST00000682238.1:c.11_14del	ENSP00000508124.1:p.Ser4Ter
ENST00000683117.1:n.1052_1055del
ENST00000683450.1:n.974_977del
ENST00000683851.1:n.1052_1055del
ENST00000683957.1:n.883_886del
ENST00000684130.1:c.11_14del	ENSP00000508037.1:p.Ser4Ter
ENST00000357033.9:c.7391_7394del MANE Select	ENSP00000354923.3:p.Ser2464Ter
ENST00000619831.5:c.3359_3362del	ENSP00000479270.2:p.Ser1120Ter
ENST00000620040.5:c.11_14del	ENSP00000478150.2:p.Ser4Ter
ENST00000680961.1:c.11_14del	ENSP00000506386.1:p.Ser4Ter
ENST00000681646.1:n.1052_1055del
ENST00000681839.1:c.380_383del	ENSP00000505228.1:p.Ser127Ter
ENST00000357033.8:c.7391_7394del	ENSP00000354923.3:p.Ser2464Ter
ENST00000358062.6:c.479_482del	ENSP00000350765.2:p.Ser160Ter
ENST00000359836.5:c.11_14del	ENSP00000352894.1:p.Ser4Ter
ENST00000378677.6:c.7379_7382del	ENSP00000367948.2:p.Ser2460Ter
ENST00000378707.7:c.11_14del	ENSP00000367979.3:p.Ser4Ter
ENST00000471779.1:c.148_151del	ENSP00000417075.1:n.148_151del
ENST00000474231.5:c.11_14del	ENSP00000417123.1:p.Ser4Ter
ENST00000541735.5:c.11_14del	ENSP00000444119.1:p.Ser4Ter
ENST00000619831.4:c.7376_7379del	ENSP00000479270.1:p.Ser2459Ter
ENST00000620040.4:c.7388_7391del	ENSP00000478150.1:p.Ser2463Ter
NM_000109.3:c.7367_7370del	NP_000100.2:p.Ser2456Ter
NM_004006.2:c.7391_7394del , LRG_199t1:c.7391_7394del	NP_003997.1:p.Ser2464Ter
NM_004009.3:c.7379_7382del	NP_004000.1:p.Ser2460Ter
NM_004010.3:c.7022_7025del	NP_004001.1:p.Ser2341Ter
NM_004011.3:c.3368_3371del	NP_004002.2:p.Ser1123Ter
NM_004012.3:c.3359_3362del	NP_004003.1:p.Ser1120Ter
NM_004013.2:c.11_14del	NP_004004.1:p.Ser4Ter
NM_004020.3:c.11_14del	NP_004011.2:p.Ser4Ter
NM_004021.2:c.11_14del	NP_004012.1:p.Ser4Ter
NM_004022.2:c.11_14del	NP_004013.1:p.Ser4Ter
NM_004023.2:c.11_14del	NP_004014.1:p.Ser4Ter
XM_006724468.2:c.7391_7394del	XP_006724531.1:p.Ser2464Ter
XM_006724469.2:c.7367_7370del	XP_006724532.1:p.Ser2456Ter
XM_006724470.2:c.7391_7394del	XP_006724533.1:p.Ser2464Ter
XM_006724471.2:c.7391_7394del	XP_006724534.1:p.Ser2464Ter
XM_006724472.2:c.7262_7265del	XP_006724535.1:p.Ser2421Ter
XM_006724473.2:c.7253_7256del	XP_006724536.1:p.Ser2418Ter
XM_006724474.2:c.7391_7394del	XP_006724537.1:p.Ser2464Ter
XM_006724475.2:c.7391_7394del	XP_006724538.1:p.Ser2464Ter
XM_011545467.1:c.7268_7271del	XP_011543769.1:p.Ser2423Ter
XM_011545468.1:c.7391_7394del	XP_011543770.1:p.Ser2464Ter
XM_006724469.3:c.7367_7370del	XP_006724532.1:p.Ser2456Ter
XM_006724470.3:c.7391_7394del	XP_006724533.1:p.Ser2464Ter
XM_006724474.3:c.7391_7394del	XP_006724537.1:p.Ser2464Ter
XM_011545468.2:c.7391_7394del	XP_011543770.1:p.Ser2464Ter
XM_017029328.1:c.7391_7394del	XP_016884817.1:p.Ser2464Ter
XM_017029331.1:c.1565_1568del	XP_016884820.1:p.Ser522Ter
NM_000109.4:c.7367_7370del	NP_000100.3:p.Ser2456Ter
NM_004006.3:c.7391_7394del MANE Select	NP_003997.2:p.Ser2464Ter
NM_004011.4:c.3368_3371del	NP_004002.3:p.Ser1123Ter
NM_004012.4:c.3359_3362del	NP_004003.2:p.Ser1120Ter
NM_004021.3:c.11_14del	NP_004012.2:p.Ser4Ter
NM_004023.3:c.11_14del	NP_004014.2:p.Ser4Ter
NM_004013.3:c.11_14del	NP_004004.2:p.Ser4Ter
NM_004020.4:c.11_14del	NP_004011.3:p.Ser4Ter
NM_004022.3:c.11_14del	NP_004013.2:p.Ser4Ter