Canonical Allele Identifier: CA2262085626

Gene: MAPT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45974384_45974386delinsGAT , CM000679.2:g.45974384_45974386delinsGAT	GRCh38
NC_000017.10:g.44051750_44051752delinsGAT , CM000679.1:g.44051750_44051752delinsGAT	GRCh37
NC_000017.9:g.41407586_41407588delinsGAT	NCBI36
NG_007398.1:g.84963_84965delinsGAT
NG_007398.2:g.84922_84924delinsGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.220+2439_220+2441delinsGAT	ENSP00000413056.2:n.220+2439_220+2441deli...
ENST00000703922.1:c.220+2439_220+2441delinsGAT	ENSP00000515557.1:n.220+2439_220+2441deli...
ENST00000703923.1:c.134-3991_134-3989delinsGAT	ENSP00000515558.1:n.134-3991_134-3989deli...
ENST00000703924.1:c.220+2439_220+2441delinsGAT	ENSP00000515559.1:n.220+2439_220+2441deli...
ENST00000703975.1:n.265-3991_265-3989delinsGAT
ENST00000703976.1:n.332+2439_332+2441delinsGAT
ENST00000703977.1:n.175-3991_175-3989delinsGAT
ENST00000703978.1:c.221-1_222delinsGAT
ENST00000703979.1:n.237+2439_237+2441delinsGAT
ENST00000262410.10:c.220+2439_220+2441delinsGAT MANE Select	ENSP00000262410.6:n.220+2439_220+2441deli...
ENST00000344290.10:c.220+2439_220+2441delinsGAT	ENSP00000340820.6:n.220+2439_220+2441deli...
ENST00000351559.10:c.221-1_222delinsGAT
ENST00000535772.6:c.220+2439_220+2441delinsGAT	ENSP00000443028.2:n.220+2439_220+2441deli...
ENST00000680542.1:c.220+2439_220+2441delinsGAT	ENSP00000505258.1:n.220+2439_220+2441deli...
ENST00000680674.1:c.134-3991_134-3989delinsGAT	ENSP00000505478.1:n.134-3991_134-3989deli...
ENST00000262410.9:c.221-1_222delinsGAT
ENST00000334239.12:c.134-3991_134-3989delinsGAT	ENSP00000334886.8:n.134-3991_134-3989deli...
ENST00000340799.9:c.220+2439_220+2441delinsGAT	ENSP00000340438.5:n.220+2439_220+2441deli...
ENST00000344290.9:c.221-1_222delinsGAT
ENST00000351559.9:c.221-1_222delinsGAT
ENST00000415613.6:c.221-1_222delinsGAT
ENST00000420682.6:c.220+2439_220+2441delinsGAT	ENSP00000413056.2:n.220+2439_220+2441deli...
ENST00000431008.7:c.221-1_222delinsGAT
ENST00000446361.7:c.134-3991_134-3989delinsGAT	ENSP00000408975.3:n.134-3991_134-3989deli...
ENST00000535772.5:c.221-1_222delinsGAT
ENST00000570299.5:n.262-3991_262-3989delinsGAT
ENST00000571311.5:c.*175+2439_*175+2441delinsGAT	ENSP00000460048.1:n.*175+2439_*175+2441de...
ENST00000571987.5:c.221-1_222delinsGAT
ENST00000574436.5:c.221-1_222delinsGAT
ENST00000576518.1:n.1602_1604delinsGAT
NM_001123066.3:c.221-1_222delinsGAT
NM_001123067.3:c.220+2439_220+2441delinsGAT	NP_001116539.1:n.220+2439_220+2441delinsG...
NM_001203251.1:c.220+2439_220+2441delinsGAT	NP_001190180.1:n.220+2439_220+2441delinsG...
NM_001203252.1:c.221-1_222delinsGAT
NM_005910.5:c.221-1_222delinsGAT
NM_016834.4:c.134-3991_134-3989delinsGAT	NP_058518.1:n.134-3991_134-3989delinsGAT
NM_016835.4:c.221-1_222delinsGAT
NM_016841.4:c.134-3991_134-3989delinsGAT	NP_058525.1:n.134-3991_134-3989delinsGAT
XM_005257362.3:c.221-1_222delinsGAT
XM_005257364.3:c.220+2439_220+2441delinsGAT	XP_005257421.1:n.220+2439_220+2441delinsG...
XM_005257365.3:c.221-1_222delinsGAT
XM_005257366.2:c.134-3991_134-3989delinsGAT	XP_005257423.1:n.134-3991_134-3989delinsG...
XM_005257367.3:c.221-1_222delinsGAT
XM_005257368.3:c.221-1_222delinsGAT
XM_005257369.3:c.221-1_222delinsGAT
XM_005257370.3:c.220+2439_220+2441delinsGAT	XP_005257427.1:n.220+2439_220+2441delinsG...
XM_005257371.3:c.134-3991_134-3989delinsGAT	XP_005257428.1:n.134-3991_134-3989delinsG...
XM_005257362.4:c.221-1_222delinsGAT
XM_005257364.4:c.220+2439_220+2441delinsGAT	XP_005257421.1:n.220+2439_220+2441delinsG...
XM_005257365.4:c.221-1_222delinsGAT
XM_005257366.3:c.134-3991_134-3989delinsGAT	XP_005257423.1:n.134-3991_134-3989delinsG...
XM_005257367.4:c.221-1_222delinsGAT
XM_005257368.4:c.221-1_222delinsGAT
XM_005257369.4:c.221-1_222delinsGAT
XM_005257370.4:c.220+2439_220+2441delinsGAT	XP_005257427.1:n.220+2439_220+2441delinsG...
XM_005257371.4:c.134-3991_134-3989delinsGAT	XP_005257428.1:n.134-3991_134-3989delinsG...
NM_001203251.2:c.220+2439_220+2441delinsGAT	NP_001190180.1:n.220+2439_220+2441delinsG...
NM_001377265.1:c.220+2439_220+2441delinsGAT MANE Select	NP_001364194.1:n.220+2439_220+2441delinsG...
NM_001377266.1:c.220+2439_220+2441delinsGAT	NP_001364195.1:n.220+2439_220+2441delinsG...
NM_001377267.1:c.220+2439_220+2441delinsGAT	NP_001364196.1:n.220+2439_220+2441delinsG...
NM_001377268.1:c.134-3991_134-3989delinsGAT	NP_001364197.1:n.134-3991_134-3989delinsG...
NM_016834.5:c.134-3991_134-3989delinsGAT	NP_058518.1:n.134-3991_134-3989delinsGAT
NM_016841.5:c.134-3991_134-3989delinsGAT	NP_058525.1:n.134-3991_134-3989delinsGAT
NR_165166.1:n.370+2439_370+2441delinsGAT
NM_001123066.4:c.221-1_222delinsGAT
NM_001123067.4:c.220+2439_220+2441delinsGAT	NP_001116539.1:n.220+2439_220+2441delinsG...
NM_001203252.2:c.221-1_222delinsGAT
NM_005910.6:c.221-1_222delinsGAT
NM_016835.5:c.221-1_222delinsGAT