Canonical Allele Identifier: CA2695232743
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32343251_32343252insAT , CM000685.2:g.32343251_32343252insAT GRCh38
NC_000023.10:g.32361368_32361369insAT , CM000685.1:g.32361368_32361369insAT GRCh37
NC_000023.9:g.32271289_32271290insAT NCBI36
NG_012232.1:g.1001359_1001360insTA , LRG_199:g.1001359_1001360insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.468_469insTA ENSP00000350765.3:p.Ile157Ter
ENST00000357033.9:c.5622_5623insTA MANE Select ENSP00000354923.3:p.Ile1875Ter
ENST00000619831.5:c.1590_1591insTA ENSP00000479270.2:p.Ile531Ter
ENST00000357033.8:c.5622_5623insTA ENSP00000354923.3:p.Ile1875Ter
ENST00000378677.6:c.5610_5611insTA ENSP00000367948.2:p.Ile1871Ter
ENST00000488902.5:n.336-126188_336-126187insTA
ENST00000493412.1:c.279_280insTA ENSP00000417725.1:p.Ile94Ter
ENST00000619831.4:c.5610_5611insTA ENSP00000479270.1:p.Ile1871Ter
ENST00000620040.4:c.5622_5623insTA ENSP00000478150.1:p.Ile1875Ter
NM_000109.3:c.5598_5599insTA NP_000100.2:p.Ile1867Ter
NM_004006.2:c.5622_5623insTA , LRG_199t1:c.5622_5623insTA NP_003997.1:p.Ile1875Ter
NM_004009.3:c.5610_5611insTA NP_004000.1:p.Ile1871Ter
NM_004010.3:c.5253_5254insTA NP_004001.1:p.Ile1752Ter
NM_004011.3:c.1599_1600insTA NP_004002.2:p.Ile534Ter
NM_004012.3:c.1590_1591insTA NP_004003.1:p.Ile531Ter
XM_006724468.2:c.5622_5623insTA XP_006724531.1:p.Ile1875Ter
XM_006724469.2:c.5598_5599insTA XP_006724532.1:p.Ile1867Ter
XM_006724470.2:c.5622_5623insTA XP_006724533.1:p.Ile1875Ter
XM_006724471.2:c.5622_5623insTA XP_006724534.1:p.Ile1875Ter
XM_006724472.2:c.5493_5494insTA XP_006724535.1:p.Ile1832Ter
XM_006724473.2:c.5484_5485insTA XP_006724536.1:p.Ile1829Ter
XM_006724474.2:c.5622_5623insTA XP_006724537.1:p.Ile1875Ter
XM_006724475.2:c.5622_5623insTA XP_006724538.1:p.Ile1875Ter
XM_011545467.1:c.5499_5500insTA XP_011543769.1:p.Ile1834Ter
XM_011545468.1:c.5622_5623insTA XP_011543770.1:p.Ile1875Ter
XM_011545469.1:c.5622_5623insTA XP_011543771.1:p.Ile1875Ter
XM_006724469.3:c.5598_5599insTA XP_006724532.1:p.Ile1867Ter
XM_006724470.3:c.5622_5623insTA XP_006724533.1:p.Ile1875Ter
XM_006724474.3:c.5622_5623insTA XP_006724537.1:p.Ile1875Ter
XM_011545468.2:c.5622_5623insTA XP_011543770.1:p.Ile1875Ter
XM_017029328.1:c.5622_5623insTA XP_016884817.1:p.Ile1875Ter
XM_017029329.1:c.5622_5623insTA XP_016884818.1:p.Ile1875Ter
XM_017029330.2:c.5622_5623insTA XP_016884819.1:p.Ile1875Ter
NM_000109.4:c.5598_5599insTA NP_000100.3:p.Ile1867Ter
NM_004006.3:c.5622_5623insTA MANE Select NP_003997.2:p.Ile1875Ter
NM_004011.4:c.1599_1600insTA NP_004002.3:p.Ile534Ter
NM_004012.4:c.1590_1591insTA NP_004003.2:p.Ile531Ter