Canonical Allele Identifier: CA2809640055
Gene: MAPT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45989941_45989942insACACA , CM000679.2:g.45989941_45989942insACACA GRCh38
NC_000017.10:g.44067307_44067308insACACA , CM000679.1:g.44067307_44067308insACACA GRCh37
NC_000017.9:g.41423144_41423145insACACA NCBI36
NG_007398.1:g.100521_100522insACACA
NG_007398.2:g.100479_100480insACACA

Transcript Alleles

HGVS Amino-acid change
ENST00000420682.7:c.343-1519_343-1518insACACA ENSP00000413056.2:n.343-1519_343-1518insACACA
ENST00000703922.1:c.343-1519_343-1518insACACA ENSP00000515557.1:n.343-1519_343-1518insACACA
ENST00000703923.1:c.256-1519_256-1518insACACA ENSP00000515558.1:n.256-1519_256-1518insACACA
ENST00000703924.1:c.343-1519_343-1518insACACA ENSP00000515559.1:n.343-1519_343-1518insACACA
ENST00000703977.1:n.360_361insACACA
ENST00000703978.1:c.430-1519_430-1518insACACA ENSP00000515600.1:n.430-1519_430-1518insACACA
ENST00000703979.1:n.294-1519_294-1518insACACA
ENST00000262410.10:c.1471_1472insACACA MANE Select ENSP00000262410.6:p.Thr491AsnfsTer10
ENST00000344290.10:c.1408-1519_1408-1518insACACA ENSP00000340820.6:n.1408-1519_1408-1518insACACA
ENST00000351559.10:c.430-1519_430-1518insACACA ENSP00000303214.7:n.430-1519_430-1518insACACA
ENST00000535772.6:c.343-1519_343-1518insACACA ENSP00000443028.2:n.343-1519_343-1518insACACA
ENST00000680542.1:c.343-1519_343-1518insACACA ENSP00000505258.1:n.343-1519_343-1518insACACA
ENST00000680674.1:c.256-1519_256-1518insACACA ENSP00000505478.1:n.256-1519_256-1518insACACA
ENST00000262410.9:c.1246_1247insACACA ENSP00000262410.5:p.Thr416AsnfsTer10
ENST00000334239.12:c.256-1519_256-1518insACACA ENSP00000334886.8:n.256-1519_256-1518insACACA
ENST00000340799.9:c.343-1519_343-1518insACACA ENSP00000340438.5:n.343-1519_343-1518insACACA
ENST00000344290.9:c.1246_1247insACACA ENSP00000340820.5:p.Thr416AsnfsTer10
ENST00000351559.9:c.430-1519_430-1518insACACA ENSP00000303214.7:n.430-1519_430-1518insACACA
ENST00000415613.6:c.1246_1247insACACA ENSP00000410838.2:p.Thr416AsnfsTer10
ENST00000420682.6:c.343-1519_343-1518insACACA ENSP00000413056.2:n.343-1519_343-1518insACACA
ENST00000431008.7:c.430-1519_430-1518insACACA ENSP00000389250.3:n.430-1519_430-1518insACACA
ENST00000446361.7:c.256-1519_256-1518insACACA ENSP00000408975.3:n.256-1519_256-1518insACACA
ENST00000535772.5:c.430-1519_430-1518insACACA ENSP00000443028.1:n.430-1519_430-1518insACACA
ENST00000570299.5:n.384-1519_384-1518insACACA
ENST00000571987.5:c.1246_1247insACACA ENSP00000458742.1:p.Thr416AsnfsTer10
ENST00000574436.5:c.430-1519_430-1518insACACA ENSP00000460965.1:n.430-1519_430-1518insACACA
ENST00000576518.1:n.5715-1519_5715-1518insACACA
NM_001123066.3:c.1246_1247insACACA NP_001116538.2:p.Thr416AsnfsTer10
NM_001123067.3:c.343-1519_343-1518insACACA NP_001116539.1:n.343-1519_343-1518insACACA
NM_001203251.1:c.343-1519_343-1518insACACA NP_001190180.1:n.343-1519_343-1518insACACA
NM_001203252.1:c.430-1519_430-1518insACACA NP_001190181.1:n.430-1519_430-1518insACACA
NM_005910.5:c.430-1519_430-1518insACACA NP_005901.2:n.430-1519_430-1518insACACA
NM_016834.4:c.256-1519_256-1518insACACA NP_058518.1:n.256-1519_256-1518insACACA
NM_016835.4:c.1246_1247insACACA NP_058519.3:p.Thr416AsnfsTer10
NM_016841.4:c.256-1519_256-1518insACACA NP_058525.1:n.256-1519_256-1518insACACA
XM_005257362.3:c.1558_1559insACACA XP_005257419.1:p.Thr520AsnfsTer10
XM_005257364.3:c.1471_1472insACACA XP_005257421.1:p.Thr491AsnfsTer10
XM_005257365.3:c.1558_1559insACACA XP_005257422.1:p.Thr520AsnfsTer10
XM_005257366.2:c.1384_1385insACACA XP_005257423.1:p.Thr462AsnfsTer10
XM_005257367.3:c.1495-1519_1495-1518insACACA XP_005257424.1:n.1495-1519_1495-1518insACACA
XM_005257368.3:c.1495-1519_1495-1518insACACA XP_005257425.1:n.1495-1519_1495-1518insACACA
XM_005257369.3:c.493_494insACACA XP_005257426.1:p.Thr165AsnfsTer10
XM_005257370.3:c.406_407insACACA XP_005257427.1:p.Thr136AsnfsTer10
XM_005257371.3:c.319_320insACACA XP_005257428.1:p.Thr107AsnfsTer10
XM_005257362.4:c.1558_1559insACACA XP_005257419.1:p.Thr520AsnfsTer10
XM_005257364.4:c.1471_1472insACACA XP_005257421.1:p.Thr491AsnfsTer10
XM_005257365.4:c.1558_1559insACACA XP_005257422.1:p.Thr520AsnfsTer10
XM_005257366.3:c.1384_1385insACACA XP_005257423.1:p.Thr462AsnfsTer10
XM_005257367.4:c.1495-1519_1495-1518insACACA XP_005257424.1:n.1495-1519_1495-1518insACACA
XM_005257368.4:c.1495-1519_1495-1518insACACA XP_005257425.1:n.1495-1519_1495-1518insACACA
XM_005257369.4:c.493_494insACACA XP_005257426.1:p.Thr165AsnfsTer10
XM_005257370.4:c.406_407insACACA XP_005257427.1:p.Thr136AsnfsTer10
XM_005257371.4:c.319_320insACACA XP_005257428.1:p.Thr107AsnfsTer10
NM_001203251.2:c.343-1519_343-1518insACACA NP_001190180.1:n.343-1519_343-1518insACACA
NM_001377265.1:c.1471_1472insACACA MANE Select NP_001364194.1:p.Thr491AsnfsTer10
NM_001377266.1:c.1408-1519_1408-1518insACACA NP_001364195.1:n.1408-1519_1408-1518insACACA
NM_001377267.1:c.343-1519_343-1518insACACA NP_001364196.1:n.343-1519_343-1518insACACA
NM_001377268.1:c.256-1519_256-1518insACACA NP_001364197.1:n.256-1519_256-1518insACACA
NM_016834.5:c.256-1519_256-1518insACACA NP_058518.1:n.256-1519_256-1518insACACA
NM_016841.5:c.256-1519_256-1518insACACA NP_058525.1:n.256-1519_256-1518insACACA
NR_165166.1:n.493-1519_493-1518insACACA
NM_001123066.4:c.1246_1247insACACA NP_001116538.2:p.Thr416AsnfsTer10
NM_001123067.4:c.343-1519_343-1518insACACA NP_001116539.1:n.343-1519_343-1518insACACA
NM_001203252.2:c.430-1519_430-1518insACACA NP_001190181.1:n.430-1519_430-1518insACACA
NM_005910.6:c.430-1519_430-1518insACACA NP_005901.2:n.430-1519_430-1518insACACA
NM_016835.5:c.1246_1247insACACA NP_058519.3:p.Thr416AsnfsTer10