Canonical Allele Identifier: CA2695232097
Community Standard Title: NM_004006.3(DMD):c.1206_1207delinsAT (p.Leu403Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32644256_32644257delinsAT , CM000685.2:g.32644256_32644257delinsAT GRCh38
NC_000023.10:g.32662373_32662374delinsAT , CM000685.1:g.32662373_32662374delinsAT GRCh37
NC_000023.9:g.32572294_32572295delinsAT NCBI36
NG_012232.1:g.700353_700354delinsAT , LRG_199:g.700353_700354delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.1206_1207delinsAT MANE Select NP_003997.2:p.Leu403Ter
ENST00000357033.9:c.1206_1207delinsAT MANE Select ENSP00000354923.3:p.Leu403Ter
NM_000109.3:c.1182_1183delinsAT NP_000100.2:p.Leu395Ter
NM_000109.4:c.1182_1183delinsAT NP_000100.3:p.Leu395Ter
NM_004006.2:c.1206_1207delinsAT , LRG_199t1:c.1206_1207delinsAT NP_003997.1:p.Leu403Ter
NM_004009.3:c.1194_1195delinsAT NP_004000.1:p.Leu399Ter
NM_004010.3:c.837_838delinsAT NP_004001.1:p.Leu280Ter
ENST00000288447.8:c.1182_1183delinsAT ENSP00000288447.4:p.Leu395Ter
ENST00000288447.9:c.1182_1183delinsAT ENSP00000288447.4:p.Leu395Ter
ENST00000357033.8:c.1206_1207delinsAT ENSP00000354923.3:p.Leu403Ter
ENST00000378677.6:c.1194_1195delinsAT ENSP00000367948.2:p.Leu399Ter
ENST00000420596.5:c.94-279058_94-279057delinsAT ENSP00000399897.1:n.94-279058_94-279057delinsAT
ENST00000447523.1:c.247-70411_247-70410delinsAT ENSP00000395904.1:n.247-70411_247-70410delinsAT
ENST00000448370.5:c.94-279547_94-279546delinsAT ENSP00000388559.1:n.94-279547_94-279546delinsAT
ENST00000480751.1:n.87-70411_87-70410delinsAT
ENST00000488902.5:n.335+375882_335+375883delinsAT
ENST00000619831.4:c.1194_1195delinsAT ENSP00000479270.1:p.Leu399Ter
ENST00000620040.4:c.1206_1207delinsAT ENSP00000478150.1:p.Leu403Ter
ENST00000682071.1:c.837_838delinsAT ENSP00000508133.1:p.Leu280Ter
ENST00000682899.1:n.1413_1414delinsAT
ENST00000682924.1:c.1206_1207delinsAT ENSP00000508187.1:p.Leu403Ter
ENST00000683985.1:n.1413_1414delinsAT
ENST00000684165.1:n.1413_1414delinsAT
ENST00000684237.1:c.1077_1078delinsAT ENSP00000507277.1:p.Leu360Ter
ENST00000684292.1:n.1413_1414delinsAT
XM_006724468.2:c.1206_1207delinsAT XP_006724531.1:p.Leu403Ter
XM_006724469.2:c.1182_1183delinsAT XP_006724532.1:p.Leu395Ter
XM_006724469.3:c.1182_1183delinsAT XP_006724532.1:p.Leu395Ter
XM_006724470.2:c.1206_1207delinsAT XP_006724533.1:p.Leu403Ter
XM_006724470.3:c.1206_1207delinsAT XP_006724533.1:p.Leu403Ter
XM_006724471.2:c.1206_1207delinsAT XP_006724534.1:p.Leu403Ter
XM_006724472.2:c.1077_1078delinsAT XP_006724535.1:p.Leu360Ter
XM_006724473.2:c.1206_1207delinsAT XP_006724536.1:p.Leu403Ter
XM_006724474.2:c.1206_1207delinsAT XP_006724537.1:p.Leu403Ter
XM_006724474.3:c.1206_1207delinsAT XP_006724537.1:p.Leu403Ter
XM_006724475.2:c.1206_1207delinsAT XP_006724538.1:p.Leu403Ter
XM_011545467.1:c.1206_1207delinsAT XP_011543769.1:p.Leu403Ter
XM_011545468.1:c.1206_1207delinsAT XP_011543770.1:p.Leu403Ter
XM_011545468.2:c.1206_1207delinsAT XP_011543770.1:p.Leu403Ter
XM_011545469.1:c.1206_1207delinsAT XP_011543771.1:p.Leu403Ter
XM_017029328.1:c.1206_1207delinsAT XP_016884817.1:p.Leu403Ter
XM_017029329.1:c.1206_1207delinsAT XP_016884818.1:p.Leu403Ter
XM_017029330.2:c.1206_1207delinsAT XP_016884819.1:p.Leu403Ter