Canonical Allele Identifier: CA2262092288

Gene: MAPT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45990029_45990030delinsTC , CM000679.2:g.45990029_45990030delinsTC	GRCh38
NC_000017.10:g.44067395_44067396delinsTC , CM000679.1:g.44067395_44067396delinsTC	GRCh37
NC_000017.9:g.41423232_41423233delinsTC	NCBI36
NG_007398.1:g.100609_100610delinsTC
NG_007398.2:g.100567_100568delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.343-1431_343-1430delinsTC	ENSP00000413056.2:n.343-1431_343-1430delinsTC
ENST00000703922.1:c.343-1431_343-1430delinsTC	ENSP00000515557.1:n.343-1431_343-1430delinsTC
ENST00000703923.1:c.256-1431_256-1430delinsTC	ENSP00000515558.1:n.256-1431_256-1430delinsTC
ENST00000703924.1:c.343-1431_343-1430delinsTC	ENSP00000515559.1:n.343-1431_343-1430delinsTC
ENST00000703977.1:n.448_449delinsTC
ENST00000703978.1:c.430-1431_430-1430delinsTC	ENSP00000515600.1:n.430-1431_430-1430delinsTC
ENST00000703979.1:n.294-1431_294-1430delinsTC
ENST00000262410.10:c.1559_1560delinsTC MANE Select	ENSP00000262410.6:p.Val520=
ENST00000344290.10:c.1408-1431_1408-1430delinsTC	ENSP00000340820.6:n.1408-1431_1408-1430delinsTC
ENST00000351559.10:c.430-1431_430-1430delinsTC	ENSP00000303214.7:n.430-1431_430-1430delinsTC
ENST00000535772.6:c.343-1431_343-1430delinsTC	ENSP00000443028.2:n.343-1431_343-1430delinsTC
ENST00000680542.1:c.343-1431_343-1430delinsTC	ENSP00000505258.1:n.343-1431_343-1430delinsTC
ENST00000680674.1:c.256-1431_256-1430delinsTC	ENSP00000505478.1:n.256-1431_256-1430delinsTC
ENST00000262410.9:c.1334_1335delinsTC	ENSP00000262410.5:p.Val445=
ENST00000334239.12:c.256-1431_256-1430delinsTC	ENSP00000334886.8:n.256-1431_256-1430delinsTC
ENST00000340799.9:c.343-1431_343-1430delinsTC	ENSP00000340438.5:n.343-1431_343-1430delinsTC
ENST00000344290.9:c.1334_1335delinsTC	ENSP00000340820.5:p.Val445=
ENST00000351559.9:c.430-1431_430-1430delinsTC	ENSP00000303214.7:n.430-1431_430-1430delinsTC
ENST00000415613.6:c.1334_1335delinsTC	ENSP00000410838.2:p.Val445=
ENST00000420682.6:c.343-1431_343-1430delinsTC	ENSP00000413056.2:n.343-1431_343-1430delinsTC
ENST00000431008.7:c.430-1431_430-1430delinsTC	ENSP00000389250.3:n.430-1431_430-1430delinsTC
ENST00000446361.7:c.256-1431_256-1430delinsTC	ENSP00000408975.3:n.256-1431_256-1430delinsTC
ENST00000535772.5:c.430-1431_430-1430delinsTC	ENSP00000443028.1:n.430-1431_430-1430delinsTC
ENST00000570299.5:n.384-1431_384-1430delinsTC
ENST00000571987.5:c.1334_1335delinsTC	ENSP00000458742.1:p.Val445=
ENST00000574436.5:c.430-1431_430-1430delinsTC	ENSP00000460965.1:n.430-1431_430-1430delinsTC
ENST00000576518.1:n.5715-1431_5715-1430delinsTC
NM_001123066.3:c.1334_1335delinsTC	NP_001116538.2:p.Val445=
NM_001123067.3:c.343-1431_343-1430delinsTC	NP_001116539.1:n.343-1431_343-1430delinsTC
NM_001203251.1:c.343-1431_343-1430delinsTC	NP_001190180.1:n.343-1431_343-1430delinsTC
NM_001203252.1:c.430-1431_430-1430delinsTC	NP_001190181.1:n.430-1431_430-1430delinsTC
NM_005910.5:c.430-1431_430-1430delinsTC	NP_005901.2:n.430-1431_430-1430delinsTC
NM_016834.4:c.256-1431_256-1430delinsTC	NP_058518.1:n.256-1431_256-1430delinsTC
NM_016835.4:c.1334_1335delinsTC	NP_058519.3:p.Val445=
NM_016841.4:c.256-1431_256-1430delinsTC	NP_058525.1:n.256-1431_256-1430delinsTC
XM_005257362.3:c.1646_1647delinsTC	XP_005257419.1:p.Val549=
XM_005257364.3:c.1559_1560delinsTC	XP_005257421.1:p.Val520=
XM_005257365.3:c.1646_1647delinsTC	XP_005257422.1:p.Val549=
XM_005257366.2:c.1472_1473delinsTC	XP_005257423.1:p.Val491=
XM_005257367.3:c.1495-1431_1495-1430delinsTC	XP_005257424.1:n.1495-1431_1495-1430delinsTC
XM_005257368.3:c.1495-1431_1495-1430delinsTC	XP_005257425.1:n.1495-1431_1495-1430delinsTC
XM_005257369.3:c.581_582delinsTC	XP_005257426.1:p.Val194=
XM_005257370.3:c.494_495delinsTC	XP_005257427.1:p.Val165=
XM_005257371.3:c.407_408delinsTC	XP_005257428.1:p.Val136=
XM_005257362.4:c.1646_1647delinsTC	XP_005257419.1:p.Val549=
XM_005257364.4:c.1559_1560delinsTC	XP_005257421.1:p.Val520=
XM_005257365.4:c.1646_1647delinsTC	XP_005257422.1:p.Val549=
XM_005257366.3:c.1472_1473delinsTC	XP_005257423.1:p.Val491=
XM_005257367.4:c.1495-1431_1495-1430delinsTC	XP_005257424.1:n.1495-1431_1495-1430delinsTC
XM_005257368.4:c.1495-1431_1495-1430delinsTC	XP_005257425.1:n.1495-1431_1495-1430delinsTC
XM_005257369.4:c.581_582delinsTC	XP_005257426.1:p.Val194=
XM_005257370.4:c.494_495delinsTC	XP_005257427.1:p.Val165=
XM_005257371.4:c.407_408delinsTC	XP_005257428.1:p.Val136=
NM_001203251.2:c.343-1431_343-1430delinsTC	NP_001190180.1:n.343-1431_343-1430delinsTC
NM_001377265.1:c.1559_1560delinsTC MANE Select	NP_001364194.1:p.Val520=
NM_001377266.1:c.1408-1431_1408-1430delinsTC	NP_001364195.1:n.1408-1431_1408-1430delinsTC
NM_001377267.1:c.343-1431_343-1430delinsTC	NP_001364196.1:n.343-1431_343-1430delinsTC
NM_001377268.1:c.256-1431_256-1430delinsTC	NP_001364197.1:n.256-1431_256-1430delinsTC
NM_016834.5:c.256-1431_256-1430delinsTC	NP_058518.1:n.256-1431_256-1430delinsTC
NM_016841.5:c.256-1431_256-1430delinsTC	NP_058525.1:n.256-1431_256-1430delinsTC
NR_165166.1:n.493-1431_493-1430delinsTC
NM_001123066.4:c.1334_1335delinsTC	NP_001116538.2:p.Val445=
NM_001123067.4:c.343-1431_343-1430delinsTC	NP_001116539.1:n.343-1431_343-1430delinsTC
NM_001203252.2:c.430-1431_430-1430delinsTC	NP_001190181.1:n.430-1431_430-1430delinsTC
NM_005910.6:c.430-1431_430-1430delinsTC	NP_005901.2:n.430-1431_430-1430delinsTC
NM_016835.5:c.1334_1335delinsTC	NP_058519.3:p.Val445=