Canonical Allele Identifier: CA2695234109

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365085_32365086del , CM000685.2:g.32365085_32365086del	GRCh38
NC_000023.10:g.32383202_32383203del , CM000685.1:g.32383202_32383203del	GRCh37
NC_000023.9:g.32293123_32293124del	NCBI36
NG_012232.1:g.979524_979525del , LRG_199:g.979524_979525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4959_4960del MANE Select	ENSP00000354923.3:p.Leu1655SerfsTer3
ENST00000619831.5:c.927_928del	ENSP00000479270.2:p.Leu311SerfsTer3
ENST00000357033.8:c.4959_4960del	ENSP00000354923.3:p.Leu1655SerfsTer3
ENST00000378677.6:c.4947_4948del	ENSP00000367948.2:p.Leu1651SerfsTer3
ENST00000420596.5:c.207_208del	ENSP00000399897.1:p.Leu71SerfsTer3
ENST00000448370.5:c.94-376_94-375del	ENSP00000388559.1:n.94-376_94-375del
ENST00000488902.5:n.336-148023_336-148022del
ENST00000619831.4:c.4947_4948del	ENSP00000479270.1:p.Leu1651SerfsTer3
ENST00000620040.4:c.4959_4960del	ENSP00000478150.1:p.Leu1655SerfsTer3
NM_000109.3:c.4935_4936del	NP_000100.2:p.Leu1647SerfsTer3
NM_004006.2:c.4959_4960del , LRG_199t1:c.4959_4960del	NP_003997.1:p.Leu1655SerfsTer3
NM_004009.3:c.4947_4948del	NP_004000.1:p.Leu1651SerfsTer3
NM_004010.3:c.4590_4591del	NP_004001.1:p.Leu1532SerfsTer3
NM_004011.3:c.936_937del	NP_004002.2:p.Leu314SerfsTer3
NM_004012.3:c.927_928del	NP_004003.1:p.Leu311SerfsTer3
XM_006724468.2:c.4959_4960del	XP_006724531.1:p.Leu1655SerfsTer3
XM_006724469.2:c.4935_4936del	XP_006724532.1:p.Leu1647SerfsTer3
XM_006724470.2:c.4959_4960del	XP_006724533.1:p.Leu1655SerfsTer3
XM_006724471.2:c.4959_4960del	XP_006724534.1:p.Leu1655SerfsTer3
XM_006724472.2:c.4830_4831del	XP_006724535.1:p.Leu1612SerfsTer3
XM_006724473.2:c.4959_4960del	XP_006724536.1:p.Leu1655SerfsTer3
XM_006724474.2:c.4959_4960del	XP_006724537.1:p.Leu1655SerfsTer3
XM_006724475.2:c.4959_4960del	XP_006724538.1:p.Leu1655SerfsTer3
XM_011545467.1:c.4959_4960del	XP_011543769.1:p.Leu1655SerfsTer3
XM_011545468.1:c.4959_4960del	XP_011543770.1:p.Leu1655SerfsTer3
XM_011545469.1:c.4959_4960del	XP_011543771.1:p.Leu1655SerfsTer3
XM_006724469.3:c.4935_4936del	XP_006724532.1:p.Leu1647SerfsTer3
XM_006724470.3:c.4959_4960del	XP_006724533.1:p.Leu1655SerfsTer3
XM_006724474.3:c.4959_4960del	XP_006724537.1:p.Leu1655SerfsTer3
XM_011545468.2:c.4959_4960del	XP_011543770.1:p.Leu1655SerfsTer3
XM_017029328.1:c.4959_4960del	XP_016884817.1:p.Leu1655SerfsTer3
XM_017029329.1:c.4959_4960del	XP_016884818.1:p.Leu1655SerfsTer3
XM_017029330.2:c.4959_4960del	XP_016884819.1:p.Leu1655SerfsTer3
NM_000109.4:c.4935_4936del	NP_000100.3:p.Leu1647SerfsTer3
NM_004006.3:c.4959_4960del MANE Select	NP_003997.2:p.Leu1655SerfsTer3
NM_004011.4:c.936_937del	NP_004002.3:p.Leu314SerfsTer3
NM_004012.4:c.927_928del	NP_004003.2:p.Leu311SerfsTer3