Canonical Allele Identifier: CA645579839

Gene: MAPT

Linked Data

• COSMIC: COSM5495198 ; COSM5495199 ; COSM5495200

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45996607_45996612del , CM000679.2:g.45996607_45996612del	GRCh38
NC_000017.10:g.44073973_44073978del , CM000679.1:g.44073973_44073978del	GRCh37
NC_000017.9:g.41429810_41429815del	NCBI36
NG_007398.1:g.107187_107192del
NG_007398.2:g.107145_107150del

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.678_683del	ENSP00000413056.2:p.Asn226_Val227del
ENST00000703922.1:c.678_683del	ENSP00000515557.1:p.Asn226_Val227del
ENST00000703923.1:c.591_596del	ENSP00000515558.1:p.Asn197_Val198del
ENST00000703924.1:c.678_683del	ENSP00000515559.1:p.Asn226_Val227del
ENST00000703978.1:c.765_770del	ENSP00000515600.1:p.Asn255_Val256del
ENST00000703979.1:n.629_634del
ENST00000262410.10:c.1941_1946del MANE Select	ENSP00000262410.6:p.Asn647_Val648del
ENST00000344290.10:c.1743_1748del	ENSP00000340820.6:p.Asn581_Val582del
ENST00000351559.10:c.765_770del	ENSP00000303214.7:p.Asn255_Val256del
ENST00000535772.6:c.678_683del	ENSP00000443028.2:p.Asn226_Val227del
ENST00000680542.1:c.678_683del	ENSP00000505258.1:p.Asn226_Val227del
ENST00000680674.1:c.591_596del	ENSP00000505478.1:p.Asn197_Val198del
ENST00000262410.9:c.1716_1721del	ENSP00000262410.5:p.Asn572_Val573del
ENST00000334239.12:c.591_596del	ENSP00000334886.8:p.Asn197_Val198del
ENST00000340799.9:c.678_683del	ENSP00000340438.5:p.Asn226_Val227del
ENST00000344290.9:c.1770_1775del	ENSP00000340820.5:p.Asn590_Val591del
ENST00000351559.9:c.765_770del	ENSP00000303214.7:p.Asn255_Val256del
ENST00000415613.6:c.1770_1775del	ENSP00000410838.2:p.Asn590_Val591del
ENST00000420682.6:c.678_683del	ENSP00000413056.2:p.Asn226_Val227del
ENST00000431008.7:c.765_770del	ENSP00000389250.3:p.Asn255_Val256del
ENST00000446361.7:c.591_596del	ENSP00000408975.3:p.Asn197_Val198del
ENST00000535772.5:c.765_770del	ENSP00000443028.1:p.Asn255_Val256del
ENST00000570299.5:n.719_724del
ENST00000571987.5:c.1716_1721del	ENSP00000458742.1:p.Asn572_Val573del
ENST00000574436.5:c.765_770del	ENSP00000460965.1:p.Asn255_Val256del
ENST00000576518.1:n.6050_6055del
NM_001123066.3:c.1770_1775del	NP_001116538.2:p.Asn590_Val591del
NM_001123067.3:c.678_683del	NP_001116539.1:p.Asn226_Val227del
NM_001203251.1:c.678_683del	NP_001190180.1:p.Asn226_Val227del
NM_001203252.1:c.765_770del	NP_001190181.1:p.Asn255_Val256del
NM_005910.5:c.765_770del	NP_005901.2:p.Asn255_Val256del
NM_016834.4:c.591_596del	NP_058518.1:p.Asn197_Val198del
NM_016835.4:c.1716_1721del	NP_058519.3:p.Asn572_Val573del
NM_016841.4:c.591_596del	NP_058525.1:p.Asn197_Val198del
XM_005257362.3:c.2028_2033del	XP_005257419.1:p.Asn676_Val677del
XM_005257364.3:c.1941_1946del	XP_005257421.1:p.Asn647_Val648del
XM_005257365.3:c.2028_2033del	XP_005257422.1:p.Asn676_Val677del
XM_005257366.2:c.1854_1859del	XP_005257423.1:p.Asn618_Val619del
XM_005257367.3:c.1830_1835del	XP_005257424.1:p.Asn610_Val611del
XM_005257368.3:c.1830_1835del	XP_005257425.1:p.Asn610_Val611del
XM_005257369.3:c.963_968del	XP_005257426.1:p.Asn321_Val322del
XM_005257370.3:c.876_881del	XP_005257427.1:p.Asn292_Val293del
XM_005257371.3:c.789_794del	XP_005257428.1:p.Asn263_Val264del
XM_005257362.4:c.2028_2033del	XP_005257419.1:p.Asn676_Val677del
XM_005257364.4:c.1941_1946del	XP_005257421.1:p.Asn647_Val648del
XM_005257365.4:c.2028_2033del	XP_005257422.1:p.Asn676_Val677del
XM_005257366.3:c.1854_1859del	XP_005257423.1:p.Asn618_Val619del
XM_005257367.4:c.1830_1835del	XP_005257424.1:p.Asn610_Val611del
XM_005257368.4:c.1830_1835del	XP_005257425.1:p.Asn610_Val611del
XM_005257369.4:c.963_968del	XP_005257426.1:p.Asn321_Val322del
XM_005257370.4:c.876_881del	XP_005257427.1:p.Asn292_Val293del
XM_005257371.4:c.789_794del	XP_005257428.1:p.Asn263_Val264del
NM_001203251.2:c.678_683del	NP_001190180.1:p.Asn226_Val227del
NM_001377265.1:c.1941_1946del MANE Select	NP_001364194.1:p.Asn647_Val648del
NM_001377266.1:c.1743_1748del	NP_001364195.1:p.Asn581_Val582del
NM_001377267.1:c.678_683del	NP_001364196.1:p.Asn226_Val227del
NM_001377268.1:c.591_596del	NP_001364197.1:p.Asn197_Val198del
NM_016834.5:c.591_596del	NP_058518.1:p.Asn197_Val198del
NM_016841.5:c.591_596del	NP_058525.1:p.Asn197_Val198del
NR_165166.1:n.689_694del
NM_001123066.4:c.1770_1775del	NP_001116538.2:p.Asn590_Val591del
NM_001123067.4:c.678_683del	NP_001116539.1:p.Asn226_Val227del
NM_001203252.2:c.765_770del	NP_001190181.1:p.Asn255_Val256del
NM_005910.6:c.765_770del	NP_005901.2:p.Asn255_Val256del
NM_016835.5:c.1716_1721del	NP_058519.3:p.Asn572_Val573del