Canonical Allele Identifier: CA2570376939
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32573690_32573691insG , CM000685.2:g.32573690_32573691insG GRCh38
NC_000023.10:g.32591807_32591808insG , CM000685.1:g.32591807_32591808insG GRCh37
NC_000023.9:g.32501728_32501729insG NCBI36
NG_012232.1:g.770919_770920insC , LRG_199:g.770919_770920insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682071.1:c.1336-54_1336-53insC ENSP00000508133.1:n.1336-54_1336-53insC
ENST00000682899.1:n.1912-54_1912-53insC
ENST00000682924.1:c.*204-54_*204-53insC ENSP00000508187.1:n.*204-54_*204-53insC
ENST00000683985.1:n.1912-54_1912-53insC
ENST00000684165.1:n.1912-54_1912-53insC
ENST00000684292.1:n.1912-54_1912-53insC
ENST00000288447.9:c.1681-54_1681-53insC ENSP00000288447.4:n.1681-54_1681-53insC
ENST00000357033.9:c.1705-54_1705-53insC MANE Select ENSP00000354923.3:n.1705-54_1705-53insC
ENST00000288447.8:c.1681-54_1681-53insC ENSP00000288447.4:n.1681-54_1681-53insC
ENST00000357033.8:c.1705-54_1705-53insC ENSP00000354923.3:n.1705-54_1705-53insC
ENST00000378677.6:c.1693-54_1693-53insC ENSP00000367948.2:n.1693-54_1693-53insC
ENST00000420596.5:c.94-208492_94-208491insC ENSP00000399897.1:n.94-208492_94-208491insC
ENST00000447523.1:c.349-54_349-53insC ENSP00000395904.1:n.349-54_349-53insC
ENST00000448370.5:c.94-208981_94-208980insC ENSP00000388559.1:n.94-208981_94-208980insC
ENST00000480751.1:n.189-54_189-53insC
ENST00000488902.5:n.336-356628_336-356627insC
ENST00000619831.4:c.1693-54_1693-53insC ENSP00000479270.1:n.1693-54_1693-53insC
ENST00000620040.4:c.1705-54_1705-53insC ENSP00000478150.1:n.1705-54_1705-53insC
NM_000109.3:c.1681-54_1681-53insC NP_000100.2:n.1681-54_1681-53insC
NM_004006.2:c.1705-54_1705-53insC , LRG_199t1:c.1705-54_1705-53insC NP_003997.1:n.1705-54_1705-53insC
NM_004009.3:c.1693-54_1693-53insC NP_004000.1:n.1693-54_1693-53insC
NM_004010.3:c.1336-54_1336-53insC NP_004001.1:n.1336-54_1336-53insC
XM_006724468.2:c.1705-54_1705-53insC XP_006724531.1:n.1705-54_1705-53insC
XM_006724469.2:c.1681-54_1681-53insC XP_006724532.1:n.1681-54_1681-53insC
XM_006724470.2:c.1705-54_1705-53insC XP_006724533.1:n.1705-54_1705-53insC
XM_006724471.2:c.1705-54_1705-53insC XP_006724534.1:n.1705-54_1705-53insC
XM_006724472.2:c.1576-54_1576-53insC XP_006724535.1:n.1576-54_1576-53insC
XM_006724473.2:c.1705-54_1705-53insC XP_006724536.1:n.1705-54_1705-53insC
XM_006724474.2:c.1705-54_1705-53insC XP_006724537.1:n.1705-54_1705-53insC
XM_006724475.2:c.1705-54_1705-53insC XP_006724538.1:n.1705-54_1705-53insC
XM_011545467.1:c.1705-54_1705-53insC XP_011543769.1:n.1705-54_1705-53insC
XM_011545468.1:c.1705-54_1705-53insC XP_011543770.1:n.1705-54_1705-53insC
XM_011545469.1:c.1705-54_1705-53insC XP_011543771.1:n.1705-54_1705-53insC
XM_006724469.3:c.1681-54_1681-53insC XP_006724532.1:n.1681-54_1681-53insC
XM_006724470.3:c.1705-54_1705-53insC XP_006724533.1:n.1705-54_1705-53insC
XM_006724474.3:c.1705-54_1705-53insC XP_006724537.1:n.1705-54_1705-53insC
XM_011545468.2:c.1705-54_1705-53insC XP_011543770.1:n.1705-54_1705-53insC
XM_017029328.1:c.1705-54_1705-53insC XP_016884817.1:n.1705-54_1705-53insC
XM_017029329.1:c.1705-54_1705-53insC XP_016884818.1:n.1705-54_1705-53insC
XM_017029330.2:c.1705-54_1705-53insC XP_016884819.1:n.1705-54_1705-53insC
NM_000109.4:c.1681-54_1681-53insC NP_000100.3:n.1681-54_1681-53insC
NM_004006.3:c.1705-54_1705-53insC MANE Select NP_003997.2:n.1705-54_1705-53insC