Canonical Allele Identifier: CA2840625563

Gene: MAPT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46023994dup , CM000679.2:g.46023994dup	GRCh38
NC_000017.10:g.44101360dup , CM000679.1:g.44101360dup	GRCh37
NC_000017.9:g.41457205dup	NCBI36
NG_007398.1:g.134582dup
NG_007398.2:g.134532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.1062dup	ENSP00000413056.2:p.Ala355SerfsTer?
ENST00000703922.1:c.1062dup	ENSP00000515557.1:p.Ala355SerfsTer?
ENST00000703923.1:c.975dup	ENSP00000515558.1:p.Ala326SerfsTer?
ENST00000703924.1:c.1062dup	ENSP00000515559.1:p.Ala355SerfsTer?
ENST00000703978.1:c.1149dup	ENSP00000515600.1:p.Ala384SerfsTer?
ENST00000703980.1:n.375dup
ENST00000703981.1:n.333dup
ENST00000703982.1:n.567dup
ENST00000262410.10:c.2325dup MANE Select	ENSP00000262410.6:p.Ala776SerfsTer?
ENST00000344290.10:c.2034dup	ENSP00000340820.6:p.Ala679SerfsTer?
ENST00000351559.10:c.1149dup	ENSP00000303214.7:p.Ala384SerfsTer?
ENST00000535772.6:c.969dup	ENSP00000443028.2:p.Ala324SerfsTer?
ENST00000680542.1:c.1062dup	ENSP00000505258.1:p.Ala355SerfsTer?
ENST00000680674.1:c.1098dup	ENSP00000505478.1:p.Ala367SerfsTer?
ENST00000262410.9:c.2100dup	ENSP00000262410.5:p.Ala701SerfsTer?
ENST00000334239.12:c.882dup	ENSP00000334886.8:p.Ala295SerfsTer?
ENST00000340799.9:c.1062dup	ENSP00000340438.5:p.Ala355SerfsTer?
ENST00000344290.9:c.2154dup	ENSP00000340820.5:p.Ala719SerfsTer?
ENST00000351559.9:c.1149dup	ENSP00000303214.7:p.Ala384SerfsTer?
ENST00000415613.6:c.2154dup	ENSP00000410838.2:p.Ala719SerfsTer?
ENST00000420682.6:c.1062dup	ENSP00000413056.2:p.Ala355SerfsTer?
ENST00000431008.7:c.1056dup	ENSP00000389250.3:p.Ala353SerfsTer?
ENST00000446361.7:c.975dup	ENSP00000408975.3:p.Ala326SerfsTer?
ENST00000535772.5:c.1056dup	ENSP00000443028.1:p.Ala353SerfsTer?
ENST00000571987.5:c.2100dup	ENSP00000458742.1:p.Ala701SerfsTer?
ENST00000574436.5:c.1149dup	ENSP00000460965.1:p.Ala384SerfsTer?
ENST00000576518.1:n.6341dup
NM_001123066.3:c.2154dup	NP_001116538.2:p.Ala719SerfsTer?
NM_001123067.3:c.1062dup	NP_001116539.1:p.Ala355SerfsTer?
NM_001203251.1:c.969dup	NP_001190180.1:p.Ala324SerfsTer?
NM_001203252.1:c.1056dup	NP_001190181.1:p.Ala353SerfsTer?
NM_005910.5:c.1149dup	NP_005901.2:p.Ala384SerfsTer?
NM_016834.4:c.975dup	NP_058518.1:p.Ala326SerfsTer?
NM_016835.4:c.2100dup	NP_058519.3:p.Ala701SerfsTer?
NM_016841.4:c.882dup	NP_058525.1:p.Ala295SerfsTer?
XM_005257362.3:c.2412dup	XP_005257419.1:p.Ala805SerfsTer?
XM_005257364.3:c.2325dup	XP_005257421.1:p.Ala776SerfsTer?
XM_005257365.3:c.2319dup	XP_005257422.1:p.Ala774SerfsTer?
XM_005257366.2:c.2238dup	XP_005257423.1:p.Ala747SerfsTer?
XM_005257367.3:c.2214dup	XP_005257424.1:p.Ala739SerfsTer?
XM_005257368.3:c.2121dup	XP_005257425.1:p.Ala708SerfsTer?
XM_005257369.3:c.1347dup	XP_005257426.1:p.Ala450SerfsTer?
XM_005257370.3:c.1260dup	XP_005257427.1:p.Ala421SerfsTer?
XM_005257371.3:c.1173dup	XP_005257428.1:p.Ala392SerfsTer?
XM_005257362.4:c.2412dup	XP_005257419.1:p.Ala805SerfsTer?
XM_005257364.4:c.2325dup	XP_005257421.1:p.Ala776SerfsTer?
XM_005257365.4:c.2319dup	XP_005257422.1:p.Ala774SerfsTer?
XM_005257366.3:c.2238dup	XP_005257423.1:p.Ala747SerfsTer?
XM_005257367.4:c.2214dup	XP_005257424.1:p.Ala739SerfsTer?
XM_005257368.4:c.2121dup	XP_005257425.1:p.Ala708SerfsTer?
XM_005257369.4:c.1347dup	XP_005257426.1:p.Ala450SerfsTer?
XM_005257370.4:c.1260dup	XP_005257427.1:p.Ala421SerfsTer?
XM_005257371.4:c.1173dup	XP_005257428.1:p.Ala392SerfsTer?
NM_001203251.2:c.969dup	NP_001190180.1:p.Ala324SerfsTer?
NM_001377265.1:c.2325dup MANE Select	NP_001364194.1:p.Ala776SerfsTer?
NM_001377266.1:c.2034dup	NP_001364195.1:p.Ala679SerfsTer?
NM_001377267.1:c.772-1123dup	NP_001364196.1:n.772-1123dup
NM_001377268.1:c.882dup	NP_001364197.1:p.Ala295SerfsTer?
NM_016834.5:c.975dup	NP_058518.1:p.Ala326SerfsTer?
NM_016841.5:c.882dup	NP_058525.1:p.Ala295SerfsTer?
NR_165166.1:n.980dup
NM_001123066.4:c.2154dup	NP_001116538.2:p.Ala719SerfsTer?
NM_001123067.4:c.1062dup	NP_001116539.1:p.Ala355SerfsTer?
NM_001203252.2:c.1056dup	NP_001190181.1:p.Ala353SerfsTer?
NM_005910.6:c.1149dup	NP_005901.2:p.Ala384SerfsTer?
NM_016835.5:c.2100dup	NP_058519.3:p.Ala701SerfsTer?