Canonical Allele Identifier: CA267050
Gene: DMD HGNC NCBI

Linked Data

dbSNP Id: rs398123977

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32364687del , CM000685.2:g.32364687del GRCh38
NC_000023.10:g.32382804del , CM000685.1:g.32382804del GRCh37
NC_000023.9:g.32292725del NCBI36
NG_012232.1:g.979926del , LRG_199:g.979926del

Transcript Alleles

HGVS Amino-acid change
ENST00000357033.9:c.5052del MANE Select ENSP00000354923.3:p.Phe1684LeufsTer?
ENST00000619831.5:c.1020del ENSP00000479270.2:p.Phe340LeufsTer?
ENST00000357033.8:c.5052del ENSP00000354923.3:p.Phe1684LeufsTer?
ENST00000378677.6:c.5040del ENSP00000367948.2:p.Phe1680LeufsTer?
ENST00000420596.5:c.300del ENSP00000399897.1:p.Phe100LeufsTer?
ENST00000448370.5:c.120del ENSP00000388559.1:p.Phe40LeufsTer?
ENST00000488902.5:n.336-147621del
ENST00000619831.4:c.5040del ENSP00000479270.1:p.Phe1680LeufsTer?
ENST00000620040.4:c.5052del ENSP00000478150.1:p.Phe1684LeufsTer?
NM_000109.3:c.5028del NP_000100.2:p.Phe1676LeufsTer?
NM_004006.2:c.5052del , LRG_199t1:c.5052del NP_003997.1:p.Phe1684LeufsTer?
NM_004009.3:c.5040del NP_004000.1:p.Phe1680LeufsTer?
NM_004010.3:c.4683del NP_004001.1:p.Phe1561LeufsTer?
NM_004011.3:c.1029del NP_004002.2:p.Phe343LeufsTer?
NM_004012.3:c.1020del NP_004003.1:p.Phe340LeufsTer?
XM_006724468.2:c.5052del XP_006724531.1:p.Phe1684LeufsTer?
XM_006724469.2:c.5028del XP_006724532.1:p.Phe1676LeufsTer?
XM_006724470.2:c.5052del XP_006724533.1:p.Phe1684LeufsTer?
XM_006724471.2:c.5052del XP_006724534.1:p.Phe1684LeufsTer?
XM_006724472.2:c.4923del XP_006724535.1:p.Phe1641LeufsTer?
XM_006724473.2:c.5052del XP_006724536.1:p.Phe1684LeufsTer?
XM_006724474.2:c.5052del XP_006724537.1:p.Phe1684LeufsTer?
XM_006724475.2:c.5052del XP_006724538.1:p.Phe1684LeufsTer?
XM_011545467.1:c.5052del XP_011543769.1:p.Phe1684LeufsTer?
XM_011545468.1:c.5052del XP_011543770.1:p.Phe1684LeufsTer?
XM_011545469.1:c.5052del XP_011543771.1:p.Phe1684LeufsTer?
XM_006724469.3:c.5028del XP_006724532.1:p.Phe1676LeufsTer?
XM_006724470.3:c.5052del XP_006724533.1:p.Phe1684LeufsTer?
XM_006724474.3:c.5052del XP_006724537.1:p.Phe1684LeufsTer?
XM_011545468.2:c.5052del XP_011543770.1:p.Phe1684LeufsTer?
XM_017029328.1:c.5052del XP_016884817.1:p.Phe1684LeufsTer?
XM_017029329.1:c.5052del XP_016884818.1:p.Phe1684LeufsTer?
XM_017029330.2:c.5052del XP_016884819.1:p.Phe1684LeufsTer?
NM_000109.4:c.5028del NP_000100.3:p.Phe1676LeufsTer?
NM_004006.3:c.5052del MANE Select NP_003997.2:p.Phe1684LeufsTer?
NM_004011.4:c.1029del NP_004002.3:p.Phe343LeufsTer?
NM_004012.4:c.1020del NP_004003.2:p.Phe340LeufsTer?