Canonical Allele Identifier: CA2576299082
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46010321_46010324del , CM000679.2:g.46010321_46010324del GRCh38
NC_000017.10:g.44087687_44087690del , CM000679.1:g.44087687_44087690del GRCh37
NC_000017.9:g.41443524_41443527del NCBI36
NG_007398.1:g.120901_120904del
NG_007398.2:g.120859_120862del

Transcript Alleles

HGVS Amino-acid change
ENST00000420682.7:c.747_750del ENSP00000413056.2:p.Asn250ArgfsTer29
ENST00000703922.1:c.747_750del ENSP00000515557.1:p.Asn250ArgfsTer29
ENST00000703923.1:c.660_663del ENSP00000515558.1:p.Asn221ArgfsTer29
ENST00000703924.1:c.747_750del ENSP00000515559.1:p.Asn250ArgfsTer29
ENST00000703978.1:c.834_837del ENSP00000515600.1:p.Asn279ArgfsTer29
ENST00000703979.1:n.687-3922_687-3919del
ENST00000703980.1:n.60_63del
ENST00000262410.10:c.2010_2013del MANE Select ENSP00000262410.6:p.Asn671ArgfsTer29
ENST00000344290.10:c.1801-3922_1801-3919del ENSP00000340820.6:n.1801-3922_1801-3919de...
ENST00000351559.10:c.834_837del ENSP00000303214.7:p.Asn279ArgfsTer29
ENST00000535772.6:c.736-3922_736-3919del ENSP00000443028.2:n.736-3922_736-3919del
ENST00000680542.1:c.747_750del ENSP00000505258.1:p.Asn250ArgfsTer29
ENST00000680674.1:c.660_663del ENSP00000505478.1:p.Asn221ArgfsTer29
ENST00000262410.9:c.1785_1788del ENSP00000262410.5:p.Asn596ArgfsTer29
ENST00000334239.12:c.649-3922_649-3919del ENSP00000334886.8:n.649-3922_649-3919del
ENST00000340799.9:c.747_750del ENSP00000340438.5:p.Asn250ArgfsTer29
ENST00000344290.9:c.1839_1842del ENSP00000340820.5:p.Asn614ArgfsTer29
ENST00000351559.9:c.834_837del ENSP00000303214.7:p.Asn279ArgfsTer29
ENST00000415613.6:c.1839_1842del ENSP00000410838.2:p.Asn614ArgfsTer29
ENST00000420682.6:c.747_750del ENSP00000413056.2:p.Asn250ArgfsTer29
ENST00000431008.7:c.823-3922_823-3919del ENSP00000389250.3:n.823-3922_823-3919del
ENST00000446361.7:c.660_663del ENSP00000408975.3:p.Asn221ArgfsTer29
ENST00000535772.5:c.823-3922_823-3919del ENSP00000443028.1:n.823-3922_823-3919del
ENST00000570299.5:n.777-8297_777-8294del
ENST00000571987.5:c.1785_1788del ENSP00000458742.1:p.Asn596ArgfsTer29
ENST00000574436.5:c.834_837del ENSP00000460965.1:p.Asn279ArgfsTer29
ENST00000576518.1:n.6108-3922_6108-3919del
NM_001123066.3:c.1839_1842del NP_001116538.2:p.Asn614ArgfsTer29
NM_001123067.3:c.747_750del NP_001116539.1:p.Asn250ArgfsTer29
NM_001203251.1:c.736-3922_736-3919del NP_001190180.1:n.736-3922_736-3919del
NM_001203252.1:c.823-3922_823-3919del NP_001190181.1:n.823-3922_823-3919del
NM_005910.5:c.834_837del NP_005901.2:p.Asn279ArgfsTer29
NM_016834.4:c.660_663del NP_058518.1:p.Asn221ArgfsTer29
NM_016835.4:c.1785_1788del NP_058519.3:p.Asn596ArgfsTer29
NM_016841.4:c.649-3922_649-3919del NP_058525.1:n.649-3922_649-3919del
XM_005257362.3:c.2097_2100del XP_005257419.1:p.Asn700ArgfsTer29
XM_005257364.3:c.2010_2013del XP_005257421.1:p.Asn671ArgfsTer29
XM_005257365.3:c.2086-3922_2086-3919del XP_005257422.1:n.2086-3922_2086-3919del
XM_005257366.2:c.1923_1926del XP_005257423.1:p.Asn642ArgfsTer29
XM_005257367.3:c.1899_1902del XP_005257424.1:p.Asn634ArgfsTer29
XM_005257368.3:c.1888-3922_1888-3919del XP_005257425.1:n.1888-3922_1888-3919del
XM_005257369.3:c.1032_1035del XP_005257426.1:p.Asn345ArgfsTer29
XM_005257370.3:c.945_948del XP_005257427.1:p.Asn316ArgfsTer29
XM_005257371.3:c.858_861del XP_005257428.1:p.Asn287ArgfsTer29
XM_005257362.4:c.2097_2100del XP_005257419.1:p.Asn700ArgfsTer29
XM_005257364.4:c.2010_2013del XP_005257421.1:p.Asn671ArgfsTer29
XM_005257365.4:c.2086-3922_2086-3919del XP_005257422.1:n.2086-3922_2086-3919del
XM_005257366.3:c.1923_1926del XP_005257423.1:p.Asn642ArgfsTer29
XM_005257367.4:c.1899_1902del XP_005257424.1:p.Asn634ArgfsTer29
XM_005257368.4:c.1888-3922_1888-3919del XP_005257425.1:n.1888-3922_1888-3919del
XM_005257369.4:c.1032_1035del XP_005257426.1:p.Asn345ArgfsTer29
XM_005257370.4:c.945_948del XP_005257427.1:p.Asn316ArgfsTer29
XM_005257371.4:c.858_861del XP_005257428.1:p.Asn287ArgfsTer29
NM_001203251.2:c.736-3922_736-3919del NP_001190180.1:n.736-3922_736-3919del
NM_001377265.1:c.2010_2013del MANE Select NP_001364194.1:p.Asn671ArgfsTer29
NM_001377266.1:c.1801-3922_1801-3919del NP_001364195.1:n.1801-3922_1801-3919del
NM_001377267.1:c.736-3922_736-3919del NP_001364196.1:n.736-3922_736-3919del
NM_001377268.1:c.649-3922_649-3919del NP_001364197.1:n.649-3922_649-3919del
NM_016834.5:c.660_663del NP_058518.1:p.Asn221ArgfsTer29
NM_016841.5:c.649-3922_649-3919del NP_058525.1:n.649-3922_649-3919del
NR_165166.1:n.747-3922_747-3919del
NM_001123066.4:c.1839_1842del NP_001116538.2:p.Asn614ArgfsTer29
NM_001123067.4:c.747_750del NP_001116539.1:p.Asn250ArgfsTer29
NM_001203252.2:c.823-3922_823-3919del NP_001190181.1:n.823-3922_823-3919del
NM_005910.6:c.834_837del NP_005901.2:p.Asn279ArgfsTer29
NM_016835.5:c.1785_1788del NP_058519.3:p.Asn596ArgfsTer29