Canonical Allele Identifier: CA16616678
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409925
ClinVar RCV Id: RCV000473975
dbSNP Id: rs1060502647
MyVariant Identifiers: chrX:g.32382752_32382753del (hg19) chrX:g.32364635_32364636del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32364639_32364640del , CM000685.2:g.32364639_32364640del GRCh38
NC_000023.10:g.32382756_32382757del , CM000685.1:g.32382756_32382757del GRCh37
NC_000023.9:g.32292677_32292678del NCBI36
NG_012232.1:g.979974_979975del , LRG_199:g.979974_979975del

Transcript Alleles

HGVS Amino-acid change
ENST00000357033.9:c.5100_5101del MANE Select ENSP00000354923.3:p.Leu1701PhefsTer3
ENST00000619831.5:c.1068_1069del ENSP00000479270.2:p.Leu357PhefsTer3
ENST00000357033.8:c.5100_5101del ENSP00000354923.3:p.Leu1701PhefsTer3
ENST00000378677.6:c.5088_5089del ENSP00000367948.2:p.Leu1697PhefsTer3
ENST00000488902.5:n.336-147573_336-147572del
ENST00000619831.4:c.5088_5089del ENSP00000479270.1:p.Leu1697PhefsTer3
ENST00000620040.4:c.5100_5101del ENSP00000478150.1:p.Leu1701PhefsTer3
NM_000109.3:c.5076_5077del NP_000100.2:p.Leu1693PhefsTer3
NM_004006.2:c.5100_5101del , LRG_199t1:c.5100_5101del NP_003997.1:p.Leu1701PhefsTer3
NM_004009.3:c.5088_5089del NP_004000.1:p.Leu1697PhefsTer3
NM_004010.3:c.4731_4732del NP_004001.1:p.Leu1578PhefsTer3
NM_004011.3:c.1077_1078del NP_004002.2:p.Leu360PhefsTer3
NM_004012.3:c.1068_1069del NP_004003.1:p.Leu357PhefsTer3
XM_006724468.2:c.5100_5101del XP_006724531.1:p.Leu1701PhefsTer3
XM_006724469.2:c.5076_5077del XP_006724532.1:p.Leu1693PhefsTer3
XM_006724470.2:c.5100_5101del XP_006724533.1:p.Leu1701PhefsTer3
XM_006724471.2:c.5100_5101del XP_006724534.1:p.Leu1701PhefsTer3
XM_006724472.2:c.4971_4972del XP_006724535.1:p.Leu1658PhefsTer3
XM_006724473.2:c.5100_5101del XP_006724536.1:p.Leu1701PhefsTer3
XM_006724474.2:c.5100_5101del XP_006724537.1:p.Leu1701PhefsTer3
XM_006724475.2:c.5100_5101del XP_006724538.1:p.Leu1701PhefsTer3
XM_011545467.1:c.5100_5101del XP_011543769.1:p.Leu1701PhefsTer3
XM_011545468.1:c.5100_5101del XP_011543770.1:p.Leu1701PhefsTer3
XM_011545469.1:c.5100_5101del XP_011543771.1:p.Leu1701PhefsTer3
XM_006724469.3:c.5076_5077del XP_006724532.1:p.Leu1693PhefsTer3
XM_006724470.3:c.5100_5101del XP_006724533.1:p.Leu1701PhefsTer3
XM_006724474.3:c.5100_5101del XP_006724537.1:p.Leu1701PhefsTer3
XM_011545468.2:c.5100_5101del XP_011543770.1:p.Leu1701PhefsTer3
XM_017029328.1:c.5100_5101del XP_016884817.1:p.Leu1701PhefsTer3
XM_017029329.1:c.5100_5101del XP_016884818.1:p.Leu1701PhefsTer3
XM_017029330.2:c.5100_5101del XP_016884819.1:p.Leu1701PhefsTer3
NM_000109.4:c.5076_5077del NP_000100.3:p.Leu1693PhefsTer3
NM_004006.3:c.5100_5101del MANE Select NP_003997.2:p.Leu1701PhefsTer3
NM_004011.4:c.1077_1078del NP_004002.3:p.Leu360PhefsTer3
NM_004012.4:c.1068_1069del NP_004003.2:p.Leu357PhefsTer3
Search 100 bp 5'
Search 100 bp 3'