Canonical Allele Identifier: CA2422736383
Gene: DMD HGNC NCBI

Linked Data

dbSNP Id: rs2097446983

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32287486_32287487del , CM000685.2:g.32287486_32287487del GRCh38
NC_000023.10:g.32305603_32305604del , CM000685.1:g.32305603_32305604del GRCh37
NC_000023.9:g.32215524_32215525del NCBI36
NG_012232.1:g.1057124_1057125del , LRG_199:g.1057124_1057125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.1136+43_1136+44del ENSP00000350765.3:n.1136+43_1136+44del
ENST00000357033.9:c.6290+43_6290+44del MANE Select ENSP00000354923.3:n.6290+43_6290+44del
ENST00000619831.5:c.2258+43_2258+44del ENSP00000479270.2:n.2258+43_2258+44del
ENST00000357033.8:c.6290+43_6290+44del ENSP00000354923.3:n.6290+43_6290+44del
ENST00000378677.6:c.6278+43_6278+44del ENSP00000367948.2:n.6278+43_6278+44del
ENST00000488902.5:n.336-70423_336-70422del
ENST00000619831.4:c.6278+43_6278+44del ENSP00000479270.1:n.6278+43_6278+44del
ENST00000620040.4:c.6290+43_6290+44del ENSP00000478150.1:n.6290+43_6290+44del
NM_000109.3:c.6266+43_6266+44del NP_000100.2:n.6266+43_6266+44del
NM_004006.2:c.6290+43_6290+44del , LRG_199t1:c.6290+43_6290+44del NP_003997.1:n.6290+43_6290+44del
NM_004009.3:c.6278+43_6278+44del NP_004000.1:n.6278+43_6278+44del
NM_004010.3:c.5921+43_5921+44del NP_004001.1:n.5921+43_5921+44del
NM_004011.3:c.2267+43_2267+44del NP_004002.2:n.2267+43_2267+44del
NM_004012.3:c.2258+43_2258+44del NP_004003.1:n.2258+43_2258+44del
XM_006724468.2:c.6290+43_6290+44del XP_006724531.1:n.6290+43_6290+44del
XM_006724469.2:c.6266+43_6266+44del XP_006724532.1:n.6266+43_6266+44del
XM_006724470.2:c.6290+43_6290+44del XP_006724533.1:n.6290+43_6290+44del
XM_006724471.2:c.6290+43_6290+44del XP_006724534.1:n.6290+43_6290+44del
XM_006724472.2:c.6161+43_6161+44del XP_006724535.1:n.6161+43_6161+44del
XM_006724473.2:c.6152+43_6152+44del XP_006724536.1:n.6152+43_6152+44del
XM_006724474.2:c.6290+43_6290+44del XP_006724537.1:n.6290+43_6290+44del
XM_006724475.2:c.6290+43_6290+44del XP_006724538.1:n.6290+43_6290+44del
XM_011545467.1:c.6167+43_6167+44del XP_011543769.1:n.6167+43_6167+44del
XM_011545468.1:c.6290+43_6290+44del XP_011543770.1:n.6290+43_6290+44del
XM_006724469.3:c.6266+43_6266+44del XP_006724532.1:n.6266+43_6266+44del
XM_006724470.3:c.6290+43_6290+44del XP_006724533.1:n.6290+43_6290+44del
XM_006724474.3:c.6290+43_6290+44del XP_006724537.1:n.6290+43_6290+44del
XM_011545468.2:c.6290+43_6290+44del XP_011543770.1:n.6290+43_6290+44del
XM_017029328.1:c.6290+43_6290+44del XP_016884817.1:n.6290+43_6290+44del
XM_017029329.1:c.6290+43_6290+44del XP_016884818.1:n.6290+43_6290+44del
XM_017029330.2:c.6290+43_6290+44del XP_016884819.1:n.6290+43_6290+44del
XM_017029331.1:c.464+43_464+44del XP_016884820.1:n.464+43_464+44del
NM_000109.4:c.6266+43_6266+44del NP_000100.3:n.6266+43_6266+44del
NM_004006.3:c.6290+43_6290+44del MANE Select NP_003997.2:n.6290+43_6290+44del
NM_004011.4:c.2267+43_2267+44del NP_004002.3:n.2267+43_2267+44del
NM_004012.4:c.2258+43_2258+44del NP_004003.2:n.2258+43_2258+44del