Canonical Allele Identifier: CA123828
Gene: MAPT HGNC NCBI

Linked Data

ClinVar Variation Id: 98243

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46010371_46010373del , CM000679.2:g.46010371_46010373del GRCh38
NC_000017.10:g.44087737_44087739del , CM000679.1:g.44087737_44087739del GRCh37
NC_000017.9:g.41443574_41443576del NCBI36
NG_007398.1:g.120951_120953del
NG_007398.2:g.120909_120911del

Transcript Alleles

HGVS Amino-acid change
ENST00000262410.9:c.1835_1837del ENSP00000262410.5:p.Asn613del
ENST00000334239.12:c.649-3872_649-3870del ENSP00000334886.8:p.=
ENST00000340799.9:c.797_799del ENSP00000340438.5:p.Asn267del
ENST00000344290.9:c.1889_1891del ENSP00000340820.5:p.Asn631del
ENST00000351559.9:c.884_886del ENSP00000303214.7:p.Asn296del
ENST00000415613.6:n.1889_1891del ENSP00000410838.2:p.Asn631del
ENST00000420682.6:n.797_799del ENSP00000413056.2:p.Asn267del
ENST00000431008.7:n.823-3872_823-3870del ENSP00000389250.3:p.=
ENST00000446361.7:c.710_712del ENSP00000408975.3:p.Asn238del
ENST00000535772.5:c.823-3872_823-3870del ENSP00000443028.1:p.=
ENST00000571987.5:n.1835_1837del ENSP00000458742.1:p.Asn613del
ENST00000574436.5:n.884_886del ENSP00000460965.1:p.Asn296del
NM_001123066.3:c.1889_1891del NP_001116538.2:p.Asn631del
NM_001123067.3:c.797_799del NP_001116539.1:p.Asn267del
NM_001203251.1:c.736-3872_736-3870del NP_001190180.1:p.=
NM_001203252.1:c.823-3872_823-3870del NP_001190181.1:p.=
NM_005910.5:c.884_886del NP_005901.2:p.Asn296del
NM_016834.4:c.710_712del NP_058518.1:p.Asn238del
NM_016835.4:c.1835_1837del NP_058519.3:p.Asn613del
NM_016841.4:c.649-3872_649-3870del NP_058525.1:p.=
XM_005257362.3:c.2147_2149del XP_005257419.1:p.Asn717del
XM_005257364.3:c.2060_2062del XP_005257421.1:p.Asn688del
XM_005257365.3:c.2086-3872_2086-3870del XP_005257422.1:p.=
XM_005257366.2:c.1973_1975del XP_005257423.1:p.Asn659del
XM_005257367.3:c.1949_1951del XP_005257424.1:p.Asn651del
XM_005257368.3:c.1888-3872_1888-3870del XP_005257425.1:p.=
XM_005257369.3:c.1082_1084del XP_005257426.1:p.Asn362del
XM_005257370.3:c.995_997del XP_005257427.1:p.Asn333del
XM_005257371.3:c.908_910del XP_005257428.1:p.Asn304del
XM_005257362.4:c.2147_2149del XP_005257419.1:p.Asn717del
XM_005257364.4:c.2060_2062del XP_005257421.1:p.Asn688del
XM_005257365.4:c.2086-3872_2086-3870del XP_005257422.1:p.=
XM_005257366.3:c.1973_1975del XP_005257423.1:p.Asn659del
XM_005257367.4:c.1949_1951del XP_005257424.1:p.Asn651del
XM_005257368.4:c.1888-3872_1888-3870del XP_005257425.1:p.=
XM_005257369.4:c.1082_1084del XP_005257426.1:p.Asn362del
XM_005257370.4:c.995_997del XP_005257427.1:p.Asn333del
XM_005257371.4:c.908_910del XP_005257428.1:p.Asn304del
NM_001203251.2:c.736-3872_736-3870del NP_001190180.1:p.=
NM_001377265.1:c.2060_2062del MANE Select NP_001364194.1:p.Asn688del
NM_001377266.1:c.1801-3872_1801-3870del NP_001364195.1:p.=
NM_001377267.1:c.736-3872_736-3870del NP_001364196.1:p.=
NM_001377268.1:c.649-3872_649-3870del NP_001364197.1:p.=
NM_016834.5:c.710_712del NP_058518.1:p.Asn238del
NM_016841.5:c.649-3872_649-3870del NP_058525.1:p.=
NM_001123066.4:c.1889_1891del NP_001116538.2:p.Asn631del
NM_001123067.4:c.797_799del NP_001116539.1:p.Asn267del
NM_001203252.2:c.823-3872_823-3870del NP_001190181.1:p.=
NM_005910.6:c.884_886del NP_005901.2:p.Asn296del
NM_016835.5:c.1835_1837del NP_058519.3:p.Asn613del