Canonical Allele Identifier: CA2695234090
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32364596_32364597delinsA , CM000685.2:g.32364596_32364597delinsA GRCh38
NC_000023.10:g.32382713_32382714delinsA , CM000685.1:g.32382713_32382714delinsA GRCh37
NC_000023.9:g.32292634_32292635delinsA NCBI36
NG_012232.1:g.980013_980014delinsT , LRG_199:g.980013_980014delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000357033.9:c.5139_5140delinsT MANE Select ENSP00000354923.3:p.Lys1713AsnfsTer8
ENST00000619831.5:c.1107_1108delinsT ENSP00000479270.2:p.Lys369AsnfsTer8
ENST00000357033.8:c.5139_5140delinsT ENSP00000354923.3:p.Lys1713AsnfsTer8
ENST00000378677.6:c.5127_5128delinsT ENSP00000367948.2:p.Lys1709AsnfsTer8
ENST00000488902.5:n.336-147534_336-147533delinsT
ENST00000619831.4:c.5127_5128delinsT ENSP00000479270.1:p.Lys1709AsnfsTer8
ENST00000620040.4:c.5139_5140delinsT ENSP00000478150.1:p.Lys1713AsnfsTer8
NM_000109.3:c.5115_5116delinsT NP_000100.2:p.Lys1705AsnfsTer8
NM_004006.2:c.5139_5140delinsT , LRG_199t1:c.5139_5140delinsT NP_003997.1:p.Lys1713AsnfsTer8
NM_004009.3:c.5127_5128delinsT NP_004000.1:p.Lys1709AsnfsTer8
NM_004010.3:c.4770_4771delinsT NP_004001.1:p.Lys1590AsnfsTer8
NM_004011.3:c.1116_1117delinsT NP_004002.2:p.Lys372AsnfsTer8
NM_004012.3:c.1107_1108delinsT NP_004003.1:p.Lys369AsnfsTer8
XM_006724468.2:c.5139_5140delinsT XP_006724531.1:p.Lys1713AsnfsTer8
XM_006724469.2:c.5115_5116delinsT XP_006724532.1:p.Lys1705AsnfsTer8
XM_006724470.2:c.5139_5140delinsT XP_006724533.1:p.Lys1713AsnfsTer8
XM_006724471.2:c.5139_5140delinsT XP_006724534.1:p.Lys1713AsnfsTer8
XM_006724472.2:c.5010_5011delinsT XP_006724535.1:p.Lys1670AsnfsTer8
XM_006724473.2:c.5139_5140delinsT XP_006724536.1:p.Lys1713AsnfsTer8
XM_006724474.2:c.5139_5140delinsT XP_006724537.1:p.Lys1713AsnfsTer8
XM_006724475.2:c.5139_5140delinsT XP_006724538.1:p.Lys1713AsnfsTer8
XM_011545467.1:c.5139_5140delinsT XP_011543769.1:p.Lys1713AsnfsTer8
XM_011545468.1:c.5139_5140delinsT XP_011543770.1:p.Lys1713AsnfsTer8
XM_011545469.1:c.5139_5140delinsT XP_011543771.1:p.Lys1713AsnfsTer8
XM_006724469.3:c.5115_5116delinsT XP_006724532.1:p.Lys1705AsnfsTer8
XM_006724470.3:c.5139_5140delinsT XP_006724533.1:p.Lys1713AsnfsTer8
XM_006724474.3:c.5139_5140delinsT XP_006724537.1:p.Lys1713AsnfsTer8
XM_011545468.2:c.5139_5140delinsT XP_011543770.1:p.Lys1713AsnfsTer8
XM_017029328.1:c.5139_5140delinsT XP_016884817.1:p.Lys1713AsnfsTer8
XM_017029329.1:c.5139_5140delinsT XP_016884818.1:p.Lys1713AsnfsTer8
XM_017029330.2:c.5139_5140delinsT XP_016884819.1:p.Lys1713AsnfsTer8
NM_000109.4:c.5115_5116delinsT NP_000100.3:p.Lys1705AsnfsTer8
NM_004006.3:c.5139_5140delinsT MANE Select NP_003997.2:p.Lys1713AsnfsTer8
NM_004011.4:c.1116_1117delinsT NP_004002.3:p.Lys372AsnfsTer8
NM_004012.4:c.1107_1108delinsT NP_004003.2:p.Lys369AsnfsTer8