Canonical Allele Identifier: CA2262101075

Gene: MAPT

Linked Data

• dbSNP Id: rs2075753139
• gnomAD v4: 17-46010524-CTGCGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46010525_46010529del , CM000679.2:g.46010525_46010529del	GRCh38
NC_000017.10:g.44087891_44087895del , CM000679.1:g.44087891_44087895del	GRCh37
NC_000017.9:g.41443728_41443732del	NCBI36
NG_007398.1:g.121105_121109del
NG_007398.2:g.121063_121067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.828+123_828+127del	ENSP00000413056.2:n.828+123_828+127del
ENST00000703922.1:c.828+123_828+127del	ENSP00000515557.1:n.828+123_828+127del
ENST00000703923.1:c.741+123_741+127del	ENSP00000515558.1:n.741+123_741+127del
ENST00000703924.1:c.828+123_828+127del	ENSP00000515559.1:n.828+123_828+127del
ENST00000703978.1:c.915+123_915+127del	ENSP00000515600.1:n.915+123_915+127del
ENST00000703979.1:n.687-3718_687-3714del
ENST00000703980.1:n.141+123_141+127del
ENST00000703981.1:n.84+123_84+127del
ENST00000262410.10:c.2091+123_2091+127del MANE Select	ENSP00000262410.6:n.2091+123_2091+127del
ENST00000344290.10:c.1801-3718_1801-3714del	ENSP00000340820.6:n.1801-3718_1801-3714del
ENST00000351559.10:c.915+123_915+127del	ENSP00000303214.7:n.915+123_915+127del
ENST00000535772.6:c.736-3718_736-3714del	ENSP00000443028.2:n.736-3718_736-3714del
ENST00000680542.1:c.828+123_828+127del	ENSP00000505258.1:n.828+123_828+127del
ENST00000680674.1:c.741+123_741+127del	ENSP00000505478.1:n.741+123_741+127del
ENST00000262410.9:c.1866+123_1866+127del	ENSP00000262410.5:n.1866+123_1866+127del
ENST00000334239.12:c.649-3718_649-3714del	ENSP00000334886.8:n.649-3718_649-3714del
ENST00000340799.9:c.828+123_828+127del	ENSP00000340438.5:n.828+123_828+127del
ENST00000344290.9:c.1920+123_1920+127del	ENSP00000340820.5:n.1920+123_1920+127del
ENST00000351559.9:c.915+123_915+127del	ENSP00000303214.7:n.915+123_915+127del
ENST00000415613.6:c.1920+123_1920+127del	ENSP00000410838.2:n.1920+123_1920+127del
ENST00000420682.6:c.828+123_828+127del	ENSP00000413056.2:n.828+123_828+127del
ENST00000431008.7:c.823-3718_823-3714del	ENSP00000389250.3:n.823-3718_823-3714del
ENST00000446361.7:c.741+123_741+127del	ENSP00000408975.3:n.741+123_741+127del
ENST00000535772.5:c.823-3718_823-3714del	ENSP00000443028.1:n.823-3718_823-3714del
ENST00000570299.5:n.777-8093_777-8089del
ENST00000571987.5:c.1866+123_1866+127del	ENSP00000458742.1:n.1866+123_1866+127del
ENST00000574436.5:c.915+123_915+127del	ENSP00000460965.1:n.915+123_915+127del
ENST00000576518.1:n.6108-3718_6108-3714del
NM_001123066.3:c.1920+123_1920+127del	NP_001116538.2:n.1920+123_1920+127del
NM_001123067.3:c.828+123_828+127del	NP_001116539.1:n.828+123_828+127del
NM_001203251.1:c.736-3718_736-3714del	NP_001190180.1:n.736-3718_736-3714del
NM_001203252.1:c.823-3718_823-3714del	NP_001190181.1:n.823-3718_823-3714del
NM_005910.5:c.915+123_915+127del	NP_005901.2:n.915+123_915+127del
NM_016834.4:c.741+123_741+127del	NP_058518.1:n.741+123_741+127del
NM_016835.4:c.1866+123_1866+127del	NP_058519.3:n.1866+123_1866+127del
NM_016841.4:c.649-3718_649-3714del	NP_058525.1:n.649-3718_649-3714del
XM_005257362.3:c.2178+123_2178+127del	XP_005257419.1:n.2178+123_2178+127del
XM_005257364.3:c.2091+123_2091+127del	XP_005257421.1:n.2091+123_2091+127del
XM_005257365.3:c.2086-3718_2086-3714del	XP_005257422.1:n.2086-3718_2086-3714del
XM_005257366.2:c.2004+123_2004+127del	XP_005257423.1:n.2004+123_2004+127del
XM_005257367.3:c.1980+123_1980+127del	XP_005257424.1:n.1980+123_1980+127del
XM_005257368.3:c.1888-3718_1888-3714del	XP_005257425.1:n.1888-3718_1888-3714del
XM_005257369.3:c.1113+123_1113+127del	XP_005257426.1:n.1113+123_1113+127del
XM_005257370.3:c.1026+123_1026+127del	XP_005257427.1:n.1026+123_1026+127del
XM_005257371.3:c.939+123_939+127del	XP_005257428.1:n.939+123_939+127del
XM_005257362.4:c.2178+123_2178+127del	XP_005257419.1:n.2178+123_2178+127del
XM_005257364.4:c.2091+123_2091+127del	XP_005257421.1:n.2091+123_2091+127del
XM_005257365.4:c.2086-3718_2086-3714del	XP_005257422.1:n.2086-3718_2086-3714del
XM_005257366.3:c.2004+123_2004+127del	XP_005257423.1:n.2004+123_2004+127del
XM_005257367.4:c.1980+123_1980+127del	XP_005257424.1:n.1980+123_1980+127del
XM_005257368.4:c.1888-3718_1888-3714del	XP_005257425.1:n.1888-3718_1888-3714del
XM_005257369.4:c.1113+123_1113+127del	XP_005257426.1:n.1113+123_1113+127del
XM_005257370.4:c.1026+123_1026+127del	XP_005257427.1:n.1026+123_1026+127del
XM_005257371.4:c.939+123_939+127del	XP_005257428.1:n.939+123_939+127del
NM_001203251.2:c.736-3718_736-3714del	NP_001190180.1:n.736-3718_736-3714del
NM_001377265.1:c.2091+123_2091+127del MANE Select	NP_001364194.1:n.2091+123_2091+127del
NM_001377266.1:c.1801-3718_1801-3714del	NP_001364195.1:n.1801-3718_1801-3714del
NM_001377267.1:c.736-3718_736-3714del	NP_001364196.1:n.736-3718_736-3714del
NM_001377268.1:c.649-3718_649-3714del	NP_001364197.1:n.649-3718_649-3714del
NM_016834.5:c.741+123_741+127del	NP_058518.1:n.741+123_741+127del
NM_016841.5:c.649-3718_649-3714del	NP_058525.1:n.649-3718_649-3714del
NR_165166.1:n.747-3718_747-3714del
NM_001123066.4:c.1920+123_1920+127del	NP_001116538.2:n.1920+123_1920+127del
NM_001123067.4:c.828+123_828+127del	NP_001116539.1:n.828+123_828+127del
NM_001203252.2:c.823-3718_823-3714del	NP_001190181.1:n.823-3718_823-3714del
NM_005910.6:c.915+123_915+127del	NP_005901.2:n.915+123_915+127del
NM_016835.5:c.1866+123_1866+127del	NP_058519.3:n.1866+123_1866+127del