Canonical Allele Identifier: CA2638369114
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46010372_46010375dup , CM000679.2:g.46010372_46010375dup GRCh38
NC_000017.10:g.44087738_44087741dup , CM000679.1:g.44087738_44087741dup GRCh37
NC_000017.9:g.41443575_41443578dup NCBI36
NG_007398.1:g.120952_120955dup
NG_007398.2:g.120910_120913dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.798_801dup ENSP00000413056.2:p.Ile268Ter
ENST00000703922.1:c.798_801dup ENSP00000515557.1:p.Ile268Ter
ENST00000703923.1:c.711_714dup ENSP00000515558.1:p.Ile239Ter
ENST00000703924.1:c.798_801dup ENSP00000515559.1:p.Ile268Ter
ENST00000703978.1:c.885_888dup ENSP00000515600.1:p.Ile297Ter
ENST00000703979.1:n.687-3871_687-3868dup
ENST00000703980.1:n.111_114dup
ENST00000703981.1:n.54_57dup
ENST00000262410.10:c.2061_2064dup MANE Select ENSP00000262410.6:p.Ile689Ter
ENST00000344290.10:c.1801-3871_1801-3868dup ENSP00000340820.6:n.1801-3871_1801-3868dup
ENST00000351559.10:c.885_888dup ENSP00000303214.7:p.Ile297Ter
ENST00000535772.6:c.736-3871_736-3868dup ENSP00000443028.2:n.736-3871_736-3868dup
ENST00000680542.1:c.798_801dup ENSP00000505258.1:p.Ile268Ter
ENST00000680674.1:c.711_714dup ENSP00000505478.1:p.Ile239Ter
ENST00000262410.9:c.1836_1839dup ENSP00000262410.5:p.Ile614Ter
ENST00000334239.12:c.649-3871_649-3868dup ENSP00000334886.8:n.649-3871_649-3868dup
ENST00000340799.9:c.798_801dup ENSP00000340438.5:p.Ile268Ter
ENST00000344290.9:c.1890_1893dup ENSP00000340820.5:p.Ile632Ter
ENST00000351559.9:c.885_888dup ENSP00000303214.7:p.Ile297Ter
ENST00000415613.6:c.1890_1893dup ENSP00000410838.2:p.Ile632Ter
ENST00000420682.6:c.798_801dup ENSP00000413056.2:p.Ile268Ter
ENST00000431008.7:c.823-3871_823-3868dup ENSP00000389250.3:n.823-3871_823-3868dup
ENST00000446361.7:c.711_714dup ENSP00000408975.3:p.Ile239Ter
ENST00000535772.5:c.823-3871_823-3868dup ENSP00000443028.1:n.823-3871_823-3868dup
ENST00000570299.5:n.777-8246_777-8243dup
ENST00000571987.5:c.1836_1839dup ENSP00000458742.1:p.Ile614Ter
ENST00000574436.5:c.885_888dup ENSP00000460965.1:p.Ile297Ter
ENST00000576518.1:n.6108-3871_6108-3868dup
NM_001123066.3:c.1890_1893dup NP_001116538.2:p.Ile632Ter
NM_001123067.3:c.798_801dup NP_001116539.1:p.Ile268Ter
NM_001203251.1:c.736-3871_736-3868dup NP_001190180.1:n.736-3871_736-3868dup
NM_001203252.1:c.823-3871_823-3868dup NP_001190181.1:n.823-3871_823-3868dup
NM_005910.5:c.885_888dup NP_005901.2:p.Ile297Ter
NM_016834.4:c.711_714dup NP_058518.1:p.Ile239Ter
NM_016835.4:c.1836_1839dup NP_058519.3:p.Ile614Ter
NM_016841.4:c.649-3871_649-3868dup NP_058525.1:n.649-3871_649-3868dup
XM_005257362.3:c.2148_2151dup XP_005257419.1:p.Ile718Ter
XM_005257364.3:c.2061_2064dup XP_005257421.1:p.Ile689Ter
XM_005257365.3:c.2086-3871_2086-3868dup XP_005257422.1:n.2086-3871_2086-3868dup
XM_005257366.2:c.1974_1977dup XP_005257423.1:p.Ile660Ter
XM_005257367.3:c.1950_1953dup XP_005257424.1:p.Ile652Ter
XM_005257368.3:c.1888-3871_1888-3868dup XP_005257425.1:n.1888-3871_1888-3868dup
XM_005257369.3:c.1083_1086dup XP_005257426.1:p.Ile363Ter
XM_005257370.3:c.996_999dup XP_005257427.1:p.Ile334Ter
XM_005257371.3:c.909_912dup XP_005257428.1:p.Ile305Ter
XM_005257362.4:c.2148_2151dup XP_005257419.1:p.Ile718Ter
XM_005257364.4:c.2061_2064dup XP_005257421.1:p.Ile689Ter
XM_005257365.4:c.2086-3871_2086-3868dup XP_005257422.1:n.2086-3871_2086-3868dup
XM_005257366.3:c.1974_1977dup XP_005257423.1:p.Ile660Ter
XM_005257367.4:c.1950_1953dup XP_005257424.1:p.Ile652Ter
XM_005257368.4:c.1888-3871_1888-3868dup XP_005257425.1:n.1888-3871_1888-3868dup
XM_005257369.4:c.1083_1086dup XP_005257426.1:p.Ile363Ter
XM_005257370.4:c.996_999dup XP_005257427.1:p.Ile334Ter
XM_005257371.4:c.909_912dup XP_005257428.1:p.Ile305Ter
NM_001203251.2:c.736-3871_736-3868dup NP_001190180.1:n.736-3871_736-3868dup
NM_001377265.1:c.2061_2064dup MANE Select NP_001364194.1:p.Ile689Ter
NM_001377266.1:c.1801-3871_1801-3868dup NP_001364195.1:n.1801-3871_1801-3868dup
NM_001377267.1:c.736-3871_736-3868dup NP_001364196.1:n.736-3871_736-3868dup
NM_001377268.1:c.649-3871_649-3868dup NP_001364197.1:n.649-3871_649-3868dup
NM_016834.5:c.711_714dup NP_058518.1:p.Ile239Ter
NM_016841.5:c.649-3871_649-3868dup NP_058525.1:n.649-3871_649-3868dup
NR_165166.1:n.747-3871_747-3868dup
NM_001123066.4:c.1890_1893dup NP_001116538.2:p.Ile632Ter
NM_001123067.4:c.798_801dup NP_001116539.1:p.Ile268Ter
NM_001203252.2:c.823-3871_823-3868dup NP_001190181.1:n.823-3871_823-3868dup
NM_005910.6:c.885_888dup NP_005901.2:p.Ile297Ter
NM_016835.5:c.1836_1839dup NP_058519.3:p.Ile614Ter