Canonical Allele Identifier: CA658684290
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 492824
dbSNP Id: rs1557303381

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32362788_32362789delinsAC , CM000685.2:g.32362788_32362789delinsAC GRCh38
NC_000023.10:g.32380905_32380906delinsAC , CM000685.1:g.32380905_32380906delinsAC GRCh37
NC_000023.9:g.32290826_32290827delinsAC NCBI36
NG_012232.1:g.981821_981822delinsGT , LRG_199:g.981821_981822delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.170_171delinsGT ENSP00000350765.3:p.Lys57Ser
ENST00000357033.9:c.5324_5325delinsGT MANE Select ENSP00000354923.3:p.Lys1775Ser
ENST00000619831.5:c.1292_1293delinsGT ENSP00000479270.2:p.Lys431Ser
ENST00000357033.8:c.5324_5325delinsGT ENSP00000354923.3:p.Lys1775Ser
ENST00000378677.6:c.5312_5313delinsGT ENSP00000367948.2:p.Lys1771Ser
ENST00000488902.5:n.336-145726_336-145725delinsGT
ENST00000619831.4:c.5312_5313delinsGT ENSP00000479270.1:p.Lys1771Ser
ENST00000620040.4:c.5324_5325delinsGT ENSP00000478150.1:p.Lys1775Ser
NM_000109.3:c.5300_5301delinsGT NP_000100.2:p.Lys1767Ser
NM_004006.2:c.5324_5325delinsGT , LRG_199t1:c.5324_5325delinsGT NP_003997.1:p.Lys1775Ser
NM_004009.3:c.5312_5313delinsGT NP_004000.1:p.Lys1771Ser
NM_004010.3:c.4955_4956delinsGT NP_004001.1:p.Lys1652Ser
NM_004011.3:c.1301_1302delinsGT NP_004002.2:p.Lys434Ser
NM_004012.3:c.1292_1293delinsGT NP_004003.1:p.Lys431Ser
XM_006724468.2:c.5324_5325delinsGT XP_006724531.1:p.Lys1775Ser
XM_006724469.2:c.5300_5301delinsGT XP_006724532.1:p.Lys1767Ser
XM_006724470.2:c.5324_5325delinsGT XP_006724533.1:p.Lys1775Ser
XM_006724471.2:c.5324_5325delinsGT XP_006724534.1:p.Lys1775Ser
XM_006724472.2:c.5195_5196delinsGT XP_006724535.1:p.Lys1732Ser
XM_006724473.2:c.5324_5325delinsGT XP_006724536.1:p.Lys1775Ser
XM_006724474.2:c.5324_5325delinsGT XP_006724537.1:p.Lys1775Ser
XM_006724475.2:c.5324_5325delinsGT XP_006724538.1:p.Lys1775Ser
XM_011545467.1:c.5324_5325delinsGT XP_011543769.1:p.Lys1775Ser
XM_011545468.1:c.5324_5325delinsGT XP_011543770.1:p.Lys1775Ser
XM_011545469.1:c.5324_5325delinsGT XP_011543771.1:p.Lys1775Ser
XM_006724469.3:c.5300_5301delinsGT XP_006724532.1:p.Lys1767Ser
XM_006724470.3:c.5324_5325delinsGT XP_006724533.1:p.Lys1775Ser
XM_006724474.3:c.5324_5325delinsGT XP_006724537.1:p.Lys1775Ser
XM_011545468.2:c.5324_5325delinsGT XP_011543770.1:p.Lys1775Ser
XM_017029328.1:c.5324_5325delinsGT XP_016884817.1:p.Lys1775Ser
XM_017029329.1:c.5324_5325delinsGT XP_016884818.1:p.Lys1775Ser
XM_017029330.2:c.5324_5325delinsGT XP_016884819.1:p.Lys1775Ser
NM_000109.4:c.5300_5301delinsGT NP_000100.3:p.Lys1767Ser
NM_004006.3:c.5324_5325delinsGT MANE Select NP_003997.2:p.Lys1775Ser
NM_004011.4:c.1301_1302delinsGT NP_004002.3:p.Lys434Ser
NM_004012.4:c.1292_1293delinsGT NP_004003.2:p.Lys431Ser