Canonical Allele Identifier: CA8618224

Gene: MAPT

Linked Data

• dbSNP Id: rs778781566
• ExAC: 17:44096026 AGGACAGAGTCCAGTCGAAG / A
• gnomAD v2: 17-44096026-AGGACAGAGTCCAGTCGAAG-A
• gnomAD v3: 17-46018660-AGGACAGAGTCCAGTCGAAG-A
• gnomAD v4: 17-46018660-AGGACAGAGTCCAGTCGAAG-A
• MyVariant Identifiers: chr17:g.44096027_44096045del (hg19) ; chr17:g.46018661_46018679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018661_46018679del , CM000679.2:g.46018661_46018679del	GRCh38
NC_000017.10:g.44096027_44096045del , CM000679.1:g.44096027_44096045del	GRCh37
NC_000017.9:g.41451874_41451892del	NCBI36
NG_007398.1:g.129251_129269del
NG_007398.2:g.129199_129217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.954_972del	ENSP00000413056.2:p.Asp319LeufsTer23
ENST00000703922.1:c.954_972del	ENSP00000515557.1:p.Asp319LeufsTer23
ENST00000703923.1:c.867_885del	ENSP00000515558.1:p.Asp290LeufsTer23
ENST00000703924.1:c.954_972del	ENSP00000515559.1:p.Asp319LeufsTer23
ENST00000703978.1:c.1041_1059del	ENSP00000515600.1:p.Asp348LeufsTer23
ENST00000703979.1:n.812_830del
ENST00000703980.1:n.267_285del
ENST00000703981.1:n.225_243del
ENST00000703982.1:n.459_477del
ENST00000262410.10:c.2217_2235del MANE Select	ENSP00000262410.6:p.Asp740LeufsTer23
ENST00000344290.10:c.1926_1944del	ENSP00000340820.6:p.Asp643LeufsTer23
ENST00000351559.10:c.1041_1059del	ENSP00000303214.7:p.Asp348LeufsTer23
ENST00000535772.6:c.861_879del	ENSP00000443028.2:p.Asp288LeufsTer23
ENST00000680542.1:c.954_972del	ENSP00000505258.1:p.Asp319LeufsTer23
ENST00000680674.1:c.990_1008del	ENSP00000505478.1:p.Asp331LeufsTer23
ENST00000262410.9:c.1992_2010del	ENSP00000262410.5:p.Asp665LeufsTer23
ENST00000334239.12:c.774_792del	ENSP00000334886.8:p.Asp259LeufsTer23
ENST00000340799.9:c.954_972del	ENSP00000340438.5:p.Asp319LeufsTer23
ENST00000344290.9:c.2046_2064del	ENSP00000340820.5:p.Asp683LeufsTer23
ENST00000351559.9:c.1041_1059del	ENSP00000303214.7:p.Asp348LeufsTer23
ENST00000415613.6:c.2046_2064del	ENSP00000410838.2:p.Asp683LeufsTer23
ENST00000420682.6:c.954_972del	ENSP00000413056.2:p.Asp319LeufsTer23
ENST00000431008.7:c.948_966del	ENSP00000389250.3:p.Asp317LeufsTer23
ENST00000446361.7:c.867_885del	ENSP00000408975.3:p.Asp290LeufsTer23
ENST00000535772.5:c.948_966del	ENSP00000443028.1:p.Asp317LeufsTer23
ENST00000570299.5:n.820_838del
ENST00000571987.5:c.1992_2010del	ENSP00000458742.1:p.Asp665LeufsTer23
ENST00000574436.5:c.1041_1059del	ENSP00000460965.1:p.Asp348LeufsTer23
ENST00000576518.1:n.6233_6251del
NM_001123066.3:c.2046_2064del	NP_001116538.2:p.Asp683LeufsTer23
NM_001123067.3:c.954_972del	NP_001116539.1:p.Asp319LeufsTer23
NM_001203251.1:c.861_879del	NP_001190180.1:p.Asp288LeufsTer23
NM_001203252.1:c.948_966del	NP_001190181.1:p.Asp317LeufsTer23
NM_005910.5:c.1041_1059del	NP_005901.2:p.Asp348LeufsTer23
NM_016834.4:c.867_885del	NP_058518.1:p.Asp290LeufsTer23
NM_016835.4:c.1992_2010del	NP_058519.3:p.Asp665LeufsTer23
NM_016841.4:c.774_792del	NP_058525.1:p.Asp259LeufsTer23
XM_005257362.3:c.2304_2322del	XP_005257419.1:p.Asp769LeufsTer23
XM_005257364.3:c.2217_2235del	XP_005257421.1:p.Asp740LeufsTer23
XM_005257365.3:c.2211_2229del	XP_005257422.1:p.Asp738LeufsTer23
XM_005257366.2:c.2130_2148del	XP_005257423.1:p.Asp711LeufsTer23
XM_005257367.3:c.2106_2124del	XP_005257424.1:p.Asp703LeufsTer23
XM_005257368.3:c.2013_2031del	XP_005257425.1:p.Asp672LeufsTer23
XM_005257369.3:c.1239_1257del	XP_005257426.1:p.Asp414LeufsTer23
XM_005257370.3:c.1152_1170del	XP_005257427.1:p.Asp385LeufsTer23
XM_005257371.3:c.1065_1083del	XP_005257428.1:p.Asp356LeufsTer23
XM_005257362.4:c.2304_2322del	XP_005257419.1:p.Asp769LeufsTer23
XM_005257364.4:c.2217_2235del	XP_005257421.1:p.Asp740LeufsTer23
XM_005257365.4:c.2211_2229del	XP_005257422.1:p.Asp738LeufsTer23
XM_005257366.3:c.2130_2148del	XP_005257423.1:p.Asp711LeufsTer23
XM_005257367.4:c.2106_2124del	XP_005257424.1:p.Asp703LeufsTer23
XM_005257368.4:c.2013_2031del	XP_005257425.1:p.Asp672LeufsTer23
XM_005257369.4:c.1239_1257del	XP_005257426.1:p.Asp414LeufsTer23
XM_005257370.4:c.1152_1170del	XP_005257427.1:p.Asp385LeufsTer23
XM_005257371.4:c.1065_1083del	XP_005257428.1:p.Asp356LeufsTer23
NM_001203251.2:c.861_879del	NP_001190180.1:p.Asp288LeufsTer23
NM_001377265.1:c.2217_2235del MANE Select	NP_001364194.1:p.Asp740LeufsTer23
NM_001377266.1:c.1926_1944del	NP_001364195.1:p.Asp643LeufsTer23
NM_001377267.1:c.771+4383_771+4401del	NP_001364196.1:n.771+4383_771+4401del
NM_001377268.1:c.774_792del	NP_001364197.1:p.Asp259LeufsTer23
NM_016834.5:c.867_885del	NP_058518.1:p.Asp290LeufsTer23
NM_016841.5:c.774_792del	NP_058525.1:p.Asp259LeufsTer23
NR_165166.1:n.872_890del
NM_001123066.4:c.2046_2064del	NP_001116538.2:p.Asp683LeufsTer23
NM_001123067.4:c.954_972del	NP_001116539.1:p.Asp319LeufsTer23
NM_001203252.2:c.948_966del	NP_001190181.1:p.Asp317LeufsTer23
NM_005910.6:c.1041_1059del	NP_005901.2:p.Asp348LeufsTer23
NM_016835.5:c.1992_2010del	NP_058519.3:p.Asp665LeufsTer23