Canonical Allele Identifier: CA2695232446

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774068_31774071delinsTG , CM000685.2:g.31774068_31774071delinsTG	GRCh38
NC_000023.10:g.31792185_31792188delinsTG , CM000685.1:g.31792185_31792188delinsTG	GRCh37
NC_000023.9:g.31702106_31702109delinsTG	NCBI36
NG_012232.1:g.1570539_1570542delinsCA , LRG_199:g.1570539_1570542delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2277_2280delinsCA	ENSP00000350765.3:p.Ala760MetfsTer12
ENST00000682238.1:c.51_54delinsCA	ENSP00000508124.1:p.Ala18MetfsTer12
ENST00000683117.1:n.1092_1095delinsCA
ENST00000683450.1:n.1014_1017delinsCA
ENST00000683851.1:n.1092_1095delinsCA
ENST00000683957.1:n.923_926delinsCA
ENST00000684130.1:c.51_54delinsCA	ENSP00000508037.1:p.Ala18MetfsTer12
ENST00000357033.9:c.7431_7434delinsCA MANE Select	ENSP00000354923.3:p.Ala2478MetfsTer12
ENST00000619831.5:c.3399_3402delinsCA	ENSP00000479270.2:p.Ala1134MetfsTer12
ENST00000620040.5:c.51_54delinsCA	ENSP00000478150.2:p.Ala18MetfsTer12
ENST00000680961.1:c.51_54delinsCA	ENSP00000506386.1:p.Ala18MetfsTer12
ENST00000681646.1:n.1092_1095delinsCA
ENST00000681839.1:c.420_423delinsCA	ENSP00000505228.1:p.Ala141MetfsTer12
ENST00000357033.8:c.7431_7434delinsCA	ENSP00000354923.3:p.Ala2478MetfsTer12
ENST00000358062.6:c.519_522delinsCA	ENSP00000350765.2:p.Ala174MetfsTer12
ENST00000359836.5:c.51_54delinsCA	ENSP00000352894.1:p.Ala18MetfsTer12
ENST00000378677.6:c.7419_7422delinsCA	ENSP00000367948.2:p.Ala2474MetfsTer12
ENST00000378707.7:c.51_54delinsCA	ENSP00000367979.3:p.Ala18MetfsTer12
ENST00000471779.1:c.188_191delinsCA	ENSP00000417075.1:n.188_191delinsCA
ENST00000474231.5:c.51_54delinsCA	ENSP00000417123.1:p.Ala18MetfsTer12
ENST00000541735.5:c.51_54delinsCA	ENSP00000444119.1:p.Ala18MetfsTer12
ENST00000619831.4:c.7416_7419delinsCA	ENSP00000479270.1:p.Ala2473MetfsTer12
ENST00000620040.4:c.7428_7431delinsCA	ENSP00000478150.1:p.Ala2477MetfsTer12
NM_000109.3:c.7407_7410delinsCA	NP_000100.2:p.Ala2470MetfsTer12
NM_004006.2:c.7431_7434delinsCA , LRG_199t1:c.7431_7434delinsCA	NP_003997.1:p.Ala2478MetfsTer12
NM_004009.3:c.7419_7422delinsCA	NP_004000.1:p.Ala2474MetfsTer12
NM_004010.3:c.7062_7065delinsCA	NP_004001.1:p.Ala2355MetfsTer12
NM_004011.3:c.3408_3411delinsCA	NP_004002.2:p.Ala1137MetfsTer12
NM_004012.3:c.3399_3402delinsCA	NP_004003.1:p.Ala1134MetfsTer12
NM_004013.2:c.51_54delinsCA	NP_004004.1:p.Ala18MetfsTer12
NM_004020.3:c.51_54delinsCA	NP_004011.2:p.Ala18MetfsTer12
NM_004021.2:c.51_54delinsCA	NP_004012.1:p.Ala18MetfsTer12
NM_004022.2:c.51_54delinsCA	NP_004013.1:p.Ala18MetfsTer12
NM_004023.2:c.51_54delinsCA	NP_004014.1:p.Ala18MetfsTer12
XM_006724468.2:c.7431_7434delinsCA	XP_006724531.1:p.Ala2478MetfsTer12
XM_006724469.2:c.7407_7410delinsCA	XP_006724532.1:p.Ala2470MetfsTer12
XM_006724470.2:c.7431_7434delinsCA	XP_006724533.1:p.Ala2478MetfsTer12
XM_006724471.2:c.7431_7434delinsCA	XP_006724534.1:p.Ala2478MetfsTer12
XM_006724472.2:c.7302_7305delinsCA	XP_006724535.1:p.Ala2435MetfsTer12
XM_006724473.2:c.7293_7296delinsCA	XP_006724536.1:p.Ala2432MetfsTer12
XM_006724474.2:c.7431_7434delinsCA	XP_006724537.1:p.Ala2478MetfsTer12
XM_006724475.2:c.7431_7434delinsCA	XP_006724538.1:p.Ala2478MetfsTer12
XM_011545467.1:c.7308_7311delinsCA	XP_011543769.1:p.Ala2437MetfsTer12
XM_011545468.1:c.7431_7434delinsCA	XP_011543770.1:p.Ala2478MetfsTer12
XM_006724469.3:c.7407_7410delinsCA	XP_006724532.1:p.Ala2470MetfsTer12
XM_006724470.3:c.7431_7434delinsCA	XP_006724533.1:p.Ala2478MetfsTer12
XM_006724474.3:c.7431_7434delinsCA	XP_006724537.1:p.Ala2478MetfsTer12
XM_011545468.2:c.7431_7434delinsCA	XP_011543770.1:p.Ala2478MetfsTer12
XM_017029328.1:c.7431_7434delinsCA	XP_016884817.1:p.Ala2478MetfsTer12
XM_017029331.1:c.1605_1608delinsCA	XP_016884820.1:p.Ala536MetfsTer12
NM_000109.4:c.7407_7410delinsCA	NP_000100.3:p.Ala2470MetfsTer12
NM_004006.3:c.7431_7434delinsCA MANE Select	NP_003997.2:p.Ala2478MetfsTer12
NM_004011.4:c.3408_3411delinsCA	NP_004002.3:p.Ala1137MetfsTer12
NM_004012.4:c.3399_3402delinsCA	NP_004003.2:p.Ala1134MetfsTer12
NM_004021.3:c.51_54delinsCA	NP_004012.2:p.Ala18MetfsTer12
NM_004023.3:c.51_54delinsCA	NP_004014.2:p.Ala18MetfsTer12
NM_004013.3:c.51_54delinsCA	NP_004004.2:p.Ala18MetfsTer12
NM_004020.4:c.51_54delinsCA	NP_004011.3:p.Ala18MetfsTer12
NM_004022.3:c.51_54delinsCA	NP_004013.2:p.Ala18MetfsTer12