Canonical Allele Identifier: CA2838429067
Gene: MAPT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46024017dup , CM000679.2:g.46024017dup GRCh38
NC_000017.10:g.44101383dup , CM000679.1:g.44101383dup GRCh37
NC_000017.9:g.41457228dup NCBI36
NG_007398.1:g.134605dup
NG_007398.2:g.134555dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.1085dup ENSP00000413056.2:p.Ile363AspfsTer?
ENST00000703922.1:c.1085dup ENSP00000515557.1:p.Ile363AspfsTer?
ENST00000703923.1:c.998dup ENSP00000515558.1:p.Ile334AspfsTer?
ENST00000703924.1:c.1085dup ENSP00000515559.1:p.Ile363AspfsTer?
ENST00000703978.1:c.1172dup ENSP00000515600.1:p.Ile392AspfsTer?
ENST00000703980.1:n.398dup
ENST00000703981.1:n.356dup
ENST00000703982.1:n.590dup
ENST00000262410.10:c.2348dup MANE Select ENSP00000262410.6:p.Ile784AspfsTer?
ENST00000344290.10:c.2057dup ENSP00000340820.6:p.Ile687AspfsTer?
ENST00000351559.10:c.1172dup ENSP00000303214.7:p.Ile392AspfsTer?
ENST00000535772.6:c.992dup ENSP00000443028.2:p.Ile332AspfsTer?
ENST00000680542.1:c.1085dup ENSP00000505258.1:p.Ile363AspfsTer?
ENST00000680674.1:c.1121dup ENSP00000505478.1:p.Ile375AspfsTer?
ENST00000262410.9:c.2123dup ENSP00000262410.5:p.Ile709AspfsTer?
ENST00000334239.12:c.905dup ENSP00000334886.8:p.Ile303AspfsTer?
ENST00000340799.9:c.1085dup ENSP00000340438.5:p.Ile363AspfsTer?
ENST00000344290.9:c.2177dup ENSP00000340820.5:p.Ile727AspfsTer?
ENST00000351559.9:c.1172dup ENSP00000303214.7:p.Ile392AspfsTer?
ENST00000415613.6:c.2177dup ENSP00000410838.2:p.Ile727AspfsTer?
ENST00000420682.6:c.1085dup ENSP00000413056.2:p.Ile363AspfsTer?
ENST00000431008.7:c.1079dup ENSP00000389250.3:p.Ile361AspfsTer?
ENST00000446361.7:c.998dup ENSP00000408975.3:p.Ile334AspfsTer?
ENST00000535772.5:c.1079dup ENSP00000443028.1:p.Ile361AspfsTer?
ENST00000571987.5:c.2123dup ENSP00000458742.1:p.Ile709AspfsTer?
ENST00000574436.5:c.1172dup ENSP00000460965.1:p.Ile392AspfsTer?
ENST00000576518.1:n.6364dup
NM_001123066.3:c.2177dup NP_001116538.2:p.Ile727AspfsTer?
NM_001123067.3:c.1085dup NP_001116539.1:p.Ile363AspfsTer?
NM_001203251.1:c.992dup NP_001190180.1:p.Ile332AspfsTer?
NM_001203252.1:c.1079dup NP_001190181.1:p.Ile361AspfsTer?
NM_005910.5:c.1172dup NP_005901.2:p.Ile392AspfsTer?
NM_016834.4:c.998dup NP_058518.1:p.Ile334AspfsTer?
NM_016835.4:c.2123dup NP_058519.3:p.Ile709AspfsTer?
NM_016841.4:c.905dup NP_058525.1:p.Ile303AspfsTer?
XM_005257362.3:c.2435dup XP_005257419.1:p.Ile813AspfsTer?
XM_005257364.3:c.2348dup XP_005257421.1:p.Ile784AspfsTer?
XM_005257365.3:c.2342dup XP_005257422.1:p.Ile782AspfsTer?
XM_005257366.2:c.2261dup XP_005257423.1:p.Ile755AspfsTer?
XM_005257367.3:c.2237dup XP_005257424.1:p.Ile747AspfsTer?
XM_005257368.3:c.2144dup XP_005257425.1:p.Ile716AspfsTer?
XM_005257369.3:c.1370dup XP_005257426.1:p.Ile458AspfsTer?
XM_005257370.3:c.1283dup XP_005257427.1:p.Ile429AspfsTer?
XM_005257371.3:c.1196dup XP_005257428.1:p.Ile400AspfsTer?
XM_005257362.4:c.2435dup XP_005257419.1:p.Ile813AspfsTer?
XM_005257364.4:c.2348dup XP_005257421.1:p.Ile784AspfsTer?
XM_005257365.4:c.2342dup XP_005257422.1:p.Ile782AspfsTer?
XM_005257366.3:c.2261dup XP_005257423.1:p.Ile755AspfsTer?
XM_005257367.4:c.2237dup XP_005257424.1:p.Ile747AspfsTer?
XM_005257368.4:c.2144dup XP_005257425.1:p.Ile716AspfsTer?
XM_005257369.4:c.1370dup XP_005257426.1:p.Ile458AspfsTer?
XM_005257370.4:c.1283dup XP_005257427.1:p.Ile429AspfsTer?
XM_005257371.4:c.1196dup XP_005257428.1:p.Ile400AspfsTer?
NM_001203251.2:c.992dup NP_001190180.1:p.Ile332AspfsTer?
NM_001377265.1:c.2348dup MANE Select NP_001364194.1:p.Ile784AspfsTer?
NM_001377266.1:c.2057dup NP_001364195.1:p.Ile687AspfsTer?
NM_001377267.1:c.772-1100dup NP_001364196.1:n.772-1100dup
NM_001377268.1:c.905dup NP_001364197.1:p.Ile303AspfsTer?
NM_016834.5:c.998dup NP_058518.1:p.Ile334AspfsTer?
NM_016841.5:c.905dup NP_058525.1:p.Ile303AspfsTer?
NR_165166.1:n.1003dup
NM_001123066.4:c.2177dup NP_001116538.2:p.Ile727AspfsTer?
NM_001123067.4:c.1085dup NP_001116539.1:p.Ile363AspfsTer?
NM_001203252.2:c.1079dup NP_001190181.1:p.Ile361AspfsTer?
NM_005910.6:c.1172dup NP_005901.2:p.Ile392AspfsTer?
NM_016835.5:c.2123dup NP_058519.3:p.Ile709AspfsTer?