Canonical Allele Identifier: CA16621362
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 418861
ClinVar RCV Id: RCV000484535 RCV002470867
dbSNP Id: rs1064793479
MyVariant Identifiers: chrX:g.32404560_32404563del (hg19) chrX:g.32386443_32386446del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32386446_32386449del , CM000685.2:g.32386446_32386449del GRCh38
NC_000023.10:g.32404563_32404566del , CM000685.1:g.32404563_32404566del GRCh37
NC_000023.9:g.32314484_32314487del NCBI36
NG_012232.1:g.958164_958167del , LRG_199:g.958164_958167del

Transcript Alleles

HGVS Amino-acid change
ENST00000357033.9:c.4538_4541del MANE Select ENSP00000354923.3:p.Ser1513LysfsTer2
ENST00000619831.5:c.506_509del ENSP00000479270.2:p.Ser169LysfsTer2
ENST00000357033.8:c.4538_4541del ENSP00000354923.3:p.Ser1513LysfsTer2
ENST00000378677.6:c.4526_4529del ENSP00000367948.2:p.Ser1509LysfsTer2
ENST00000420596.5:c.94-21247_94-21244del ENSP00000399897.1:n.94-21247_94-21244del
ENST00000448370.5:c.94-21736_94-21733del ENSP00000388559.1:n.94-21736_94-21733del
ENST00000488902.5:n.336-169383_336-169380del
ENST00000619831.4:c.4526_4529del ENSP00000479270.1:p.Ser1509LysfsTer2
ENST00000620040.4:c.4538_4541del ENSP00000478150.1:p.Ser1513LysfsTer2
NM_000109.3:c.4514_4517del NP_000100.2:p.Ser1505LysfsTer2
NM_004006.2:c.4538_4541del , LRG_199t1:c.4538_4541del NP_003997.1:p.Ser1513LysfsTer2
NM_004009.3:c.4526_4529del NP_004000.1:p.Ser1509LysfsTer2
NM_004010.3:c.4169_4172del NP_004001.1:p.Ser1390LysfsTer2
NM_004011.3:c.515_518del NP_004002.2:p.Ser172LysfsTer2
NM_004012.3:c.506_509del NP_004003.1:p.Ser169LysfsTer2
XM_006724468.2:c.4538_4541del XP_006724531.1:p.Ser1513LysfsTer2
XM_006724469.2:c.4514_4517del XP_006724532.1:p.Ser1505LysfsTer2
XM_006724470.2:c.4538_4541del XP_006724533.1:p.Ser1513LysfsTer2
XM_006724471.2:c.4538_4541del XP_006724534.1:p.Ser1513LysfsTer2
XM_006724472.2:c.4409_4412del XP_006724535.1:p.Ser1470LysfsTer2
XM_006724473.2:c.4538_4541del XP_006724536.1:p.Ser1513LysfsTer2
XM_006724474.2:c.4538_4541del XP_006724537.1:p.Ser1513LysfsTer2
XM_006724475.2:c.4538_4541del XP_006724538.1:p.Ser1513LysfsTer2
XM_011545467.1:c.4538_4541del XP_011543769.1:p.Ser1513LysfsTer2
XM_011545468.1:c.4538_4541del XP_011543770.1:p.Ser1513LysfsTer2
XM_011545469.1:c.4538_4541del XP_011543771.1:p.Ser1513LysfsTer2
XM_006724469.3:c.4514_4517del XP_006724532.1:p.Ser1505LysfsTer2
XM_006724470.3:c.4538_4541del XP_006724533.1:p.Ser1513LysfsTer2
XM_006724474.3:c.4538_4541del XP_006724537.1:p.Ser1513LysfsTer2
XM_011545468.2:c.4538_4541del XP_011543770.1:p.Ser1513LysfsTer2
XM_017029328.1:c.4538_4541del XP_016884817.1:p.Ser1513LysfsTer2
XM_017029329.1:c.4538_4541del XP_016884818.1:p.Ser1513LysfsTer2
XM_017029330.2:c.4538_4541del XP_016884819.1:p.Ser1513LysfsTer2
NM_000109.4:c.4514_4517del NP_000100.3:p.Ser1505LysfsTer2
NM_004006.3:c.4538_4541del MANE Select NP_003997.2:p.Ser1513LysfsTer2
NM_004011.4:c.515_518del NP_004002.3:p.Ser172LysfsTer2
NM_004012.4:c.506_509del NP_004003.2:p.Ser169LysfsTer2
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