Canonical Allele Identifier: CA2960324968
Community Standard Title: NM_004006.3(DMD):c.1333_1334insGTTG (p.Leu445CysfsTer4)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32614451_32614452insCAAC , CM000685.2:g.32614451_32614452insCAAC GRCh38
NC_000023.10:g.32632568_32632569insCAAC , CM000685.1:g.32632568_32632569insCAAC GRCh37
NC_000023.9:g.32542489_32542490insCAAC NCBI36
NG_012232.1:g.730158_730159insGTTG , LRG_199:g.730158_730159insGTTG

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.1333_1334insGTTG MANE Select NP_003997.2:p.Leu445CysfsTer4
ENST00000357033.9:c.1333_1334insGTTG MANE Select ENSP00000354923.3:p.Leu445CysfsTer4
NM_000109.3:c.1309_1310insGTTG NP_000100.2:p.Leu437CysfsTer4
NM_000109.4:c.1309_1310insGTTG NP_000100.3:p.Leu437CysfsTer4
NM_004006.2:c.1333_1334insGTTG , LRG_199t1:c.1333_1334insGTTG NP_003997.1:p.Leu445CysfsTer4
NM_004009.3:c.1321_1322insGTTG NP_004000.1:p.Leu441CysfsTer4
NM_004010.3:c.964_965insGTTG NP_004001.1:p.Leu322CysfsTer4
ENST00000288447.8:c.1309_1310insGTTG ENSP00000288447.4:p.Leu437CysfsTer4
ENST00000288447.9:c.1309_1310insGTTG ENSP00000288447.4:p.Leu437CysfsTer4
ENST00000357033.8:c.1333_1334insGTTG ENSP00000354923.3:p.Leu445CysfsTer4
ENST00000378677.6:c.1321_1322insGTTG ENSP00000367948.2:p.Leu441CysfsTer4
ENST00000420596.5:c.94-249253_94-249252insGTTG ENSP00000399897.1:n.94-249253_94-249252insGTTG
ENST00000447523.1:c.247-40606_247-40605insGTTG ENSP00000395904.1:n.247-40606_247-40605insGTTG
ENST00000448370.5:c.94-249742_94-249741insGTTG ENSP00000388559.1:n.94-249742_94-249741insGTTG
ENST00000480751.1:n.87-40606_87-40605insGTTG
ENST00000488902.5:n.336-397389_336-397388insGTTG
ENST00000619831.4:c.1321_1322insGTTG ENSP00000479270.1:p.Leu441CysfsTer4
ENST00000620040.4:c.1333_1334insGTTG ENSP00000478150.1:p.Leu445CysfsTer4
ENST00000682071.1:c.964_965insGTTG ENSP00000508133.1:p.Leu322CysfsTer4
ENST00000682899.1:n.1540_1541insGTTG
ENST00000682924.1:c.1332-18576_1332-18575insGTTG ENSP00000508187.1:n.1332-18576_1332-18575insGTTG
ENST00000683985.1:n.1540_1541insGTTG
ENST00000684165.1:n.1540_1541insGTTG
ENST00000684237.1:c.1204_1205insGTTG ENSP00000507277.1:p.Leu402CysfsTer4
ENST00000684292.1:n.1540_1541insGTTG
XM_006724468.2:c.1333_1334insGTTG XP_006724531.1:p.Leu445CysfsTer4
XM_006724469.2:c.1309_1310insGTTG XP_006724532.1:p.Leu437CysfsTer4
XM_006724469.3:c.1309_1310insGTTG XP_006724532.1:p.Leu437CysfsTer4
XM_006724470.2:c.1333_1334insGTTG XP_006724533.1:p.Leu445CysfsTer4
XM_006724470.3:c.1333_1334insGTTG XP_006724533.1:p.Leu445CysfsTer4
XM_006724471.2:c.1333_1334insGTTG XP_006724534.1:p.Leu445CysfsTer4
XM_006724472.2:c.1204_1205insGTTG XP_006724535.1:p.Leu402CysfsTer4
XM_006724473.2:c.1333_1334insGTTG XP_006724536.1:p.Leu445CysfsTer4
XM_006724474.2:c.1333_1334insGTTG XP_006724537.1:p.Leu445CysfsTer4
XM_006724474.3:c.1333_1334insGTTG XP_006724537.1:p.Leu445CysfsTer4
XM_006724475.2:c.1333_1334insGTTG XP_006724538.1:p.Leu445CysfsTer4
XM_011545467.1:c.1333_1334insGTTG XP_011543769.1:p.Leu445CysfsTer4
XM_011545468.1:c.1333_1334insGTTG XP_011543770.1:p.Leu445CysfsTer4
XM_011545468.2:c.1333_1334insGTTG XP_011543770.1:p.Leu445CysfsTer4
XM_011545469.1:c.1333_1334insGTTG XP_011543771.1:p.Leu445CysfsTer4
XM_017029328.1:c.1333_1334insGTTG XP_016884817.1:p.Leu445CysfsTer4
XM_017029329.1:c.1333_1334insGTTG XP_016884818.1:p.Leu445CysfsTer4
XM_017029330.2:c.1333_1334insGTTG XP_016884819.1:p.Leu445CysfsTer4