Canonical Allele Identifier: CA8618220

Gene: MAPT

Linked Data

• dbSNP Id: rs749306147
• ExAC: 17:44095964 TTG / T
• gnomAD v2: 17-44095964-TTG-T
• gnomAD v3: 17-46018598-TTG-T
• gnomAD v4: 17-46018598-TTG-T
• MyVariant Identifiers: chr17:g.44095965_44095966del (hg19) ; chr17:g.46018599_46018600del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018606_46018607del , CM000679.2:g.46018606_46018607del	GRCh38
NC_000017.10:g.44095972_44095973del , CM000679.1:g.44095972_44095973del	GRCh37
NC_000017.9:g.41451819_41451820del	NCBI36
NG_007398.1:g.129196_129197del
NG_007398.2:g.129144_129145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.911-12_911-11del	ENSP00000413056.2:n.911-12_911-11del
ENST00000703922.1:c.911-12_911-11del	ENSP00000515557.1:n.911-12_911-11del
ENST00000703923.1:c.824-12_824-11del	ENSP00000515558.1:n.824-12_824-11del
ENST00000703924.1:c.911-12_911-11del	ENSP00000515559.1:n.911-12_911-11del
ENST00000703978.1:c.998-12_998-11del	ENSP00000515600.1:n.998-12_998-11del
ENST00000703979.1:n.769-12_769-11del
ENST00000703980.1:n.224-12_224-11del
ENST00000703981.1:n.182-12_182-11del
ENST00000703982.1:n.404_405del
ENST00000262410.10:c.2174-12_2174-11del MANE Select	ENSP00000262410.6:n.2174-12_2174-11del
ENST00000344290.10:c.1883-12_1883-11del	ENSP00000340820.6:n.1883-12_1883-11del
ENST00000351559.10:c.998-12_998-11del	ENSP00000303214.7:n.998-12_998-11del
ENST00000535772.6:c.818-12_818-11del	ENSP00000443028.2:n.818-12_818-11del
ENST00000680542.1:c.911-12_911-11del	ENSP00000505258.1:n.911-12_911-11del
ENST00000680674.1:c.947-12_947-11del	ENSP00000505478.1:n.947-12_947-11del
ENST00000262410.9:c.1949-12_1949-11del	ENSP00000262410.5:n.1949-12_1949-11del
ENST00000334239.12:c.731-12_731-11del	ENSP00000334886.8:n.731-12_731-11del
ENST00000340799.9:c.911-12_911-11del	ENSP00000340438.5:n.911-12_911-11del
ENST00000344290.9:c.2003-12_2003-11del	ENSP00000340820.5:n.2003-12_2003-11del
ENST00000351559.9:c.998-12_998-11del	ENSP00000303214.7:n.998-12_998-11del
ENST00000415613.6:c.2003-12_2003-11del	ENSP00000410838.2:n.2003-12_2003-11del
ENST00000420682.6:c.911-12_911-11del	ENSP00000413056.2:n.911-12_911-11del
ENST00000431008.7:c.905-12_905-11del	ENSP00000389250.3:n.905-12_905-11del
ENST00000446361.7:c.824-12_824-11del	ENSP00000408975.3:n.824-12_824-11del
ENST00000535772.5:c.905-12_905-11del	ENSP00000443028.1:n.905-12_905-11del
ENST00000570299.5:n.777-12_777-11del
ENST00000571987.5:c.1949-12_1949-11del	ENSP00000458742.1:n.1949-12_1949-11del
ENST00000574436.5:c.998-12_998-11del	ENSP00000460965.1:n.998-12_998-11del
ENST00000576518.1:n.6190-12_6190-11del
NM_001123066.3:c.2003-12_2003-11del	NP_001116538.2:n.2003-12_2003-11del
NM_001123067.3:c.911-12_911-11del	NP_001116539.1:n.911-12_911-11del
NM_001203251.1:c.818-12_818-11del	NP_001190180.1:n.818-12_818-11del
NM_001203252.1:c.905-12_905-11del	NP_001190181.1:n.905-12_905-11del
NM_005910.5:c.998-12_998-11del	NP_005901.2:n.998-12_998-11del
NM_016834.4:c.824-12_824-11del	NP_058518.1:n.824-12_824-11del
NM_016835.4:c.1949-12_1949-11del	NP_058519.3:n.1949-12_1949-11del
NM_016841.4:c.731-12_731-11del	NP_058525.1:n.731-12_731-11del
XM_005257362.3:c.2261-12_2261-11del	XP_005257419.1:n.2261-12_2261-11del
XM_005257364.3:c.2174-12_2174-11del	XP_005257421.1:n.2174-12_2174-11del
XM_005257365.3:c.2168-12_2168-11del	XP_005257422.1:n.2168-12_2168-11del
XM_005257366.2:c.2087-12_2087-11del	XP_005257423.1:n.2087-12_2087-11del
XM_005257367.3:c.2063-12_2063-11del	XP_005257424.1:n.2063-12_2063-11del
XM_005257368.3:c.1970-12_1970-11del	XP_005257425.1:n.1970-12_1970-11del
XM_005257369.3:c.1196-12_1196-11del	XP_005257426.1:n.1196-12_1196-11del
XM_005257370.3:c.1109-12_1109-11del	XP_005257427.1:n.1109-12_1109-11del
XM_005257371.3:c.1022-12_1022-11del	XP_005257428.1:n.1022-12_1022-11del
XM_005257362.4:c.2261-12_2261-11del	XP_005257419.1:n.2261-12_2261-11del
XM_005257364.4:c.2174-12_2174-11del	XP_005257421.1:n.2174-12_2174-11del
XM_005257365.4:c.2168-12_2168-11del	XP_005257422.1:n.2168-12_2168-11del
XM_005257366.3:c.2087-12_2087-11del	XP_005257423.1:n.2087-12_2087-11del
XM_005257367.4:c.2063-12_2063-11del	XP_005257424.1:n.2063-12_2063-11del
XM_005257368.4:c.1970-12_1970-11del	XP_005257425.1:n.1970-12_1970-11del
XM_005257369.4:c.1196-12_1196-11del	XP_005257426.1:n.1196-12_1196-11del
XM_005257370.4:c.1109-12_1109-11del	XP_005257427.1:n.1109-12_1109-11del
XM_005257371.4:c.1022-12_1022-11del	XP_005257428.1:n.1022-12_1022-11del
NM_001203251.2:c.818-12_818-11del	NP_001190180.1:n.818-12_818-11del
NM_001377265.1:c.2174-12_2174-11del MANE Select	NP_001364194.1:n.2174-12_2174-11del
NM_001377266.1:c.1883-12_1883-11del	NP_001364195.1:n.1883-12_1883-11del
NM_001377267.1:c.771+4328_771+4329del	NP_001364196.1:n.771+4328_771+4329del
NM_001377268.1:c.731-12_731-11del	NP_001364197.1:n.731-12_731-11del
NM_016834.5:c.824-12_824-11del	NP_058518.1:n.824-12_824-11del
NM_016841.5:c.731-12_731-11del	NP_058525.1:n.731-12_731-11del
NR_165166.1:n.829-12_829-11del
NM_001123066.4:c.2003-12_2003-11del	NP_001116538.2:n.2003-12_2003-11del
NM_001123067.4:c.911-12_911-11del	NP_001116539.1:n.911-12_911-11del
NM_001203252.2:c.905-12_905-11del	NP_001190181.1:n.905-12_905-11del
NM_005910.6:c.998-12_998-11del	NP_005901.2:n.998-12_998-11del
NM_016835.5:c.1949-12_1949-11del	NP_058519.3:n.1949-12_1949-11del