Canonical Allele Identifier: CA16616672
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409913
ClinVar RCV Id: RCV000466920
dbSNP Id: rs1060502640
MyVariant Identifiers: chrX:g.32305731del (hg19) chrX:g.32287614del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32287614del , CM000685.2:g.32287614del GRCh38
NC_000023.10:g.32305731del , CM000685.1:g.32305731del GRCh37
NC_000023.9:g.32215652del NCBI36
NG_012232.1:g.1056996del , LRG_199:g.1056996del

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.1051del ENSP00000350765.3:p.Val351TrpfsTer4
ENST00000357033.9:c.6205del MANE Select ENSP00000354923.3:p.Val2069TrpfsTer4
ENST00000619831.5:c.2173del ENSP00000479270.2:p.Val725TrpfsTer4
ENST00000357033.8:c.6205del ENSP00000354923.3:p.Val2069TrpfsTer4
ENST00000378677.6:c.6193del ENSP00000367948.2:p.Val2065TrpfsTer4
ENST00000488902.5:n.336-70551del
ENST00000619831.4:c.6193del ENSP00000479270.1:p.Val2065TrpfsTer4
ENST00000620040.4:c.6205del ENSP00000478150.1:p.Val2069TrpfsTer4
NM_000109.3:c.6181del NP_000100.2:p.Val2061TrpfsTer4
NM_004006.2:c.6205del , LRG_199t1:c.6205del NP_003997.1:p.Val2069TrpfsTer4
NM_004009.3:c.6193del NP_004000.1:p.Val2065TrpfsTer4
NM_004010.3:c.5836del NP_004001.1:p.Val1946TrpfsTer4
NM_004011.3:c.2182del NP_004002.2:p.Val728TrpfsTer4
NM_004012.3:c.2173del NP_004003.1:p.Val725TrpfsTer4
XM_006724468.2:c.6205del XP_006724531.1:p.Val2069TrpfsTer4
XM_006724469.2:c.6181del XP_006724532.1:p.Val2061TrpfsTer4
XM_006724470.2:c.6205del XP_006724533.1:p.Val2069TrpfsTer4
XM_006724471.2:c.6205del XP_006724534.1:p.Val2069TrpfsTer4
XM_006724472.2:c.6076del XP_006724535.1:p.Val2026TrpfsTer4
XM_006724473.2:c.6067del XP_006724536.1:p.Val2023TrpfsTer4
XM_006724474.2:c.6205del XP_006724537.1:p.Val2069TrpfsTer4
XM_006724475.2:c.6205del XP_006724538.1:p.Val2069TrpfsTer4
XM_011545467.1:c.6082del XP_011543769.1:p.Val2028TrpfsTer4
XM_011545468.1:c.6205del XP_011543770.1:p.Val2069TrpfsTer4
XM_006724469.3:c.6181del XP_006724532.1:p.Val2061TrpfsTer4
XM_006724470.3:c.6205del XP_006724533.1:p.Val2069TrpfsTer4
XM_006724474.3:c.6205del XP_006724537.1:p.Val2069TrpfsTer4
XM_011545468.2:c.6205del XP_011543770.1:p.Val2069TrpfsTer4
XM_017029328.1:c.6205del XP_016884817.1:p.Val2069TrpfsTer4
XM_017029329.1:c.6205del XP_016884818.1:p.Val2069TrpfsTer4
XM_017029330.2:c.6205del XP_016884819.1:p.Val2069TrpfsTer4
XM_017029331.1:c.379del XP_016884820.1:p.Val127TrpfsTer4
NM_000109.4:c.6181del NP_000100.3:p.Val2061TrpfsTer4
NM_004006.3:c.6205del MANE Select NP_003997.2:p.Val2069TrpfsTer4
NM_004011.4:c.2182del NP_004002.3:p.Val728TrpfsTer4
NM_004012.4:c.2173del NP_004003.2:p.Val725TrpfsTer4
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