Canonical Allele Identifier: CA412660594

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32216972T>A , CM000685.2:g.32216972T>A	GRCh38
NC_000023.10:g.32235089T>A , CM000685.1:g.32235089T>A	GRCh37
NC_000023.9:g.32145010T>A	NCBI36
NG_012232.1:g.1127638A>T , LRG_199:g.1127638A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.6382A>T MANE Select	NP_003997.2:p.Arg2128Ter
ENST00000357033.9:c.6382A>T MANE Select	ENSP00000354923.3:p.Arg2128Ter
NM_000109.3:c.6358A>T	NP_000100.2:p.Arg2120Ter
NM_000109.4:c.6358A>T	NP_000100.3:p.Arg2120Ter
NM_004006.2:c.6382A>T , LRG_199t1:c.6382A>T	NP_003997.1:p.Arg2128Ter
NM_004009.3:c.6370A>T	NP_004000.1:p.Arg2124Ter
NM_004010.3:c.6013A>T	NP_004001.1:p.Arg2005Ter
NM_004011.3:c.2359A>T	NP_004002.2:p.Arg787Ter
NM_004011.4:c.2359A>T	NP_004002.3:p.Arg787Ter
NM_004012.3:c.2350A>T	NP_004003.1:p.Arg784Ter
NM_004012.4:c.2350A>T	NP_004003.2:p.Arg784Ter
ENST00000357033.8:c.6382A>T	ENSP00000354923.3:p.Arg2128Ter
ENST00000358062.7:c.1228A>T	ENSP00000350765.3:p.Arg410Ter
ENST00000378677.6:c.6370A>T	ENSP00000367948.2:p.Arg2124Ter
ENST00000488902.5:n.427A>T
ENST00000619831.4:c.6370A>T	ENSP00000479270.1:p.Arg2124Ter
ENST00000619831.5:c.2350A>T	ENSP00000479270.2:p.Arg784Ter
ENST00000620040.4:c.6382A>T	ENSP00000478150.1:p.Arg2128Ter
XM_006724468.2:c.6382A>T	XP_006724531.1:p.Arg2128Ter
XM_006724469.2:c.6358A>T	XP_006724532.1:p.Arg2120Ter
XM_006724469.3:c.6358A>T	XP_006724532.1:p.Arg2120Ter
XM_006724470.2:c.6382A>T	XP_006724533.1:p.Arg2128Ter
XM_006724470.3:c.6382A>T	XP_006724533.1:p.Arg2128Ter
XM_006724471.2:c.6382A>T	XP_006724534.1:p.Arg2128Ter
XM_006724472.2:c.6253A>T	XP_006724535.1:p.Arg2085Ter
XM_006724473.2:c.6244A>T	XP_006724536.1:p.Arg2082Ter
XM_006724474.2:c.6382A>T	XP_006724537.1:p.Arg2128Ter
XM_006724474.3:c.6382A>T	XP_006724537.1:p.Arg2128Ter
XM_006724475.2:c.6382A>T	XP_006724538.1:p.Arg2128Ter
XM_011545467.1:c.6259A>T	XP_011543769.1:p.Arg2087Ter
XM_011545468.1:c.6382A>T	XP_011543770.1:p.Arg2128Ter
XM_011545468.2:c.6382A>T	XP_011543770.1:p.Arg2128Ter
XM_017029328.1:c.6382A>T	XP_016884817.1:p.Arg2128Ter
XM_017029329.1:c.6382A>T	XP_016884818.1:p.Arg2128Ter
XM_017029330.2:c.6382A>T	XP_016884819.1:p.Arg2128Ter
XM_017029331.1:c.556A>T	XP_016884820.1:p.Arg186Ter