Canonical Allele Identifier: CA291107189

Gene: MAPT

Linked Data

• dbSNP Id: rs35128093
• MyVariant Identifiers: chr17:g.44073988_44073989insG (hg19) ; chr17:g.45996622_45996623insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45996624dup , CM000679.2:g.45996624dup	GRCh38
NC_000017.10:g.44073990dup , CM000679.1:g.44073990dup	GRCh37
NC_000017.9:g.41429827dup	NCBI36
NG_007398.1:g.107204dup
NG_007398.2:g.107162dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.695dup	ENSP00000413056.2:p.Ser233LeufsTer3
ENST00000703922.1:c.695dup	ENSP00000515557.1:p.Ser233LeufsTer3
ENST00000703923.1:c.608dup	ENSP00000515558.1:p.Ser204LeufsTer3
ENST00000703924.1:c.695dup	ENSP00000515559.1:p.Ser233LeufsTer3
ENST00000703978.1:c.782dup	ENSP00000515600.1:p.Ser262LeufsTer3
ENST00000703979.1:n.646dup
ENST00000703980.1:n.14dup
ENST00000262410.10:c.1958dup MANE Select	ENSP00000262410.6:p.Ser654LeufsTer3
ENST00000344290.10:c.1760dup	ENSP00000340820.6:p.Ser588LeufsTer3
ENST00000351559.10:c.782dup	ENSP00000303214.7:p.Ser262LeufsTer3
ENST00000535772.6:c.695dup	ENSP00000443028.2:p.Ser233LeufsTer3
ENST00000680542.1:c.695dup	ENSP00000505258.1:p.Ser233LeufsTer3
ENST00000680674.1:c.608dup	ENSP00000505478.1:p.Ser204LeufsTer3
ENST00000262410.9:c.1733dup	ENSP00000262410.5:p.Ser579LeufsTer3
ENST00000334239.12:c.608dup	ENSP00000334886.8:p.Ser204LeufsTer3
ENST00000340799.9:c.695dup	ENSP00000340438.5:p.Ser233LeufsTer3
ENST00000344290.9:c.1787dup	ENSP00000340820.5:p.Ser597LeufsTer3
ENST00000351559.9:c.782dup	ENSP00000303214.7:p.Ser262LeufsTer3
ENST00000415613.6:c.1787dup	ENSP00000410838.2:p.Ser597LeufsTer3
ENST00000420682.6:c.695dup	ENSP00000413056.2:p.Ser233LeufsTer3
ENST00000431008.7:c.782dup	ENSP00000389250.3:p.Ser262LeufsTer3
ENST00000446361.7:c.608dup	ENSP00000408975.3:p.Ser204LeufsTer3
ENST00000535772.5:c.782dup	ENSP00000443028.1:p.Ser262LeufsTer3
ENST00000570299.5:n.736dup
ENST00000571987.5:c.1733dup	ENSP00000458742.1:p.Ser579LeufsTer3
ENST00000574436.5:c.782dup	ENSP00000460965.1:p.Ser262LeufsTer3
ENST00000576518.1:n.6067dup
NM_001123066.3:c.1787dup	NP_001116538.2:p.Ser597LeufsTer3
NM_001123067.3:c.695dup	NP_001116539.1:p.Ser233LeufsTer3
NM_001203251.1:c.695dup	NP_001190180.1:p.Ser233LeufsTer3
NM_001203252.1:c.782dup	NP_001190181.1:p.Ser262LeufsTer3
NM_005910.5:c.782dup	NP_005901.2:p.Ser262LeufsTer3
NM_016834.4:c.608dup	NP_058518.1:p.Ser204LeufsTer3
NM_016835.4:c.1733dup	NP_058519.3:p.Ser579LeufsTer3
NM_016841.4:c.608dup	NP_058525.1:p.Ser204LeufsTer3
XM_005257362.3:c.2045dup	XP_005257419.1:p.Ser683LeufsTer3
XM_005257364.3:c.1958dup	XP_005257421.1:p.Ser654LeufsTer3
XM_005257365.3:c.2045dup	XP_005257422.1:p.Ser683LeufsTer3
XM_005257366.2:c.1871dup	XP_005257423.1:p.Ser625LeufsTer3
XM_005257367.3:c.1847dup	XP_005257424.1:p.Ser617LeufsTer3
XM_005257368.3:c.1847dup	XP_005257425.1:p.Ser617LeufsTer3
XM_005257369.3:c.980dup	XP_005257426.1:p.Ser328LeufsTer3
XM_005257370.3:c.893dup	XP_005257427.1:p.Ser299LeufsTer3
XM_005257371.3:c.806dup	XP_005257428.1:p.Ser270LeufsTer3
XM_005257362.4:c.2045dup	XP_005257419.1:p.Ser683LeufsTer3
XM_005257364.4:c.1958dup	XP_005257421.1:p.Ser654LeufsTer3
XM_005257365.4:c.2045dup	XP_005257422.1:p.Ser683LeufsTer3
XM_005257366.3:c.1871dup	XP_005257423.1:p.Ser625LeufsTer3
XM_005257367.4:c.1847dup	XP_005257424.1:p.Ser617LeufsTer3
XM_005257368.4:c.1847dup	XP_005257425.1:p.Ser617LeufsTer3
XM_005257369.4:c.980dup	XP_005257426.1:p.Ser328LeufsTer3
XM_005257370.4:c.893dup	XP_005257427.1:p.Ser299LeufsTer3
XM_005257371.4:c.806dup	XP_005257428.1:p.Ser270LeufsTer3
NM_001203251.2:c.695dup	NP_001190180.1:p.Ser233LeufsTer3
NM_001377265.1:c.1958dup MANE Select	NP_001364194.1:p.Ser654LeufsTer3
NM_001377266.1:c.1760dup	NP_001364195.1:p.Ser588LeufsTer3
NM_001377267.1:c.695dup	NP_001364196.1:p.Ser233LeufsTer3
NM_001377268.1:c.608dup	NP_001364197.1:p.Ser204LeufsTer3
NM_016834.5:c.608dup	NP_058518.1:p.Ser204LeufsTer3
NM_016841.5:c.608dup	NP_058525.1:p.Ser204LeufsTer3
NR_165166.1:n.706dup
NM_001123066.4:c.1787dup	NP_001116538.2:p.Ser597LeufsTer3
NM_001123067.4:c.695dup	NP_001116539.1:p.Ser233LeufsTer3
NM_001203252.2:c.782dup	NP_001190181.1:p.Ser262LeufsTer3
NM_005910.6:c.782dup	NP_005901.2:p.Ser262LeufsTer3
NM_016835.5:c.1733dup	NP_058519.3:p.Ser579LeufsTer3