Canonical Allele Identifier: CA2695234108
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32365070dup , CM000685.2:g.32365070dup GRCh38
NC_000023.10:g.32383187dup , CM000685.1:g.32383187dup GRCh37
NC_000023.9:g.32293108dup NCBI36
NG_012232.1:g.979541dup , LRG_199:g.979541dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357033.9:c.4976dup MANE Select ENSP00000354923.3:p.Asn1659LysfsTer27
ENST00000619831.5:c.944dup ENSP00000479270.2:p.Asn315LysfsTer27
ENST00000357033.8:c.4976dup ENSP00000354923.3:p.Asn1659LysfsTer27
ENST00000378677.6:c.4964dup ENSP00000367948.2:p.Asn1655LysfsTer27
ENST00000420596.5:c.224dup ENSP00000399897.1:p.Asn75LysfsTer27
ENST00000448370.5:c.94-359dup ENSP00000388559.1:n.94-359dup
ENST00000488902.5:n.336-148006dup
ENST00000619831.4:c.4964dup ENSP00000479270.1:p.Asn1655LysfsTer27
ENST00000620040.4:c.4976dup ENSP00000478150.1:p.Asn1659LysfsTer27
NM_000109.3:c.4952dup NP_000100.2:p.Asn1651LysfsTer27
NM_004006.2:c.4976dup , LRG_199t1:c.4976dup NP_003997.1:p.Asn1659LysfsTer27
NM_004009.3:c.4964dup NP_004000.1:p.Asn1655LysfsTer27
NM_004010.3:c.4607dup NP_004001.1:p.Asn1536LysfsTer27
NM_004011.3:c.953dup NP_004002.2:p.Asn318LysfsTer27
NM_004012.3:c.944dup NP_004003.1:p.Asn315LysfsTer27
XM_006724468.2:c.4976dup XP_006724531.1:p.Asn1659LysfsTer27
XM_006724469.2:c.4952dup XP_006724532.1:p.Asn1651LysfsTer27
XM_006724470.2:c.4976dup XP_006724533.1:p.Asn1659LysfsTer27
XM_006724471.2:c.4976dup XP_006724534.1:p.Asn1659LysfsTer27
XM_006724472.2:c.4847dup XP_006724535.1:p.Asn1616LysfsTer27
XM_006724473.2:c.4976dup XP_006724536.1:p.Asn1659LysfsTer27
XM_006724474.2:c.4976dup XP_006724537.1:p.Asn1659LysfsTer27
XM_006724475.2:c.4976dup XP_006724538.1:p.Asn1659LysfsTer27
XM_011545467.1:c.4976dup XP_011543769.1:p.Asn1659LysfsTer27
XM_011545468.1:c.4976dup XP_011543770.1:p.Asn1659LysfsTer27
XM_011545469.1:c.4976dup XP_011543771.1:p.Asn1659LysfsTer27
XM_006724469.3:c.4952dup XP_006724532.1:p.Asn1651LysfsTer27
XM_006724470.3:c.4976dup XP_006724533.1:p.Asn1659LysfsTer27
XM_006724474.3:c.4976dup XP_006724537.1:p.Asn1659LysfsTer27
XM_011545468.2:c.4976dup XP_011543770.1:p.Asn1659LysfsTer27
XM_017029328.1:c.4976dup XP_016884817.1:p.Asn1659LysfsTer27
XM_017029329.1:c.4976dup XP_016884818.1:p.Asn1659LysfsTer27
XM_017029330.2:c.4976dup XP_016884819.1:p.Asn1659LysfsTer27
NM_000109.4:c.4952dup NP_000100.3:p.Asn1651LysfsTer27
NM_004006.3:c.4976dup MANE Select NP_003997.2:p.Asn1659LysfsTer27
NM_004011.4:c.953dup NP_004002.3:p.Asn318LysfsTer27
NM_004012.4:c.944dup NP_004003.2:p.Asn315LysfsTer27