Canonical Allele Identifier: CA2573153981

Gene: MAPT

Linked Data

• ClinVar Variation Id: 1509861
• ClinVar RCV Id: RCV002011346
• dbSNP Id: rs2145830963

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45996415_45996416del , CM000679.2:g.45996415_45996416del	GRCh38
NC_000017.10:g.44073781_44073782del , CM000679.1:g.44073781_44073782del	GRCh37
NC_000017.9:g.41429618_41429619del	NCBI36
NG_007398.1:g.106995_106996del
NG_007398.2:g.106953_106954del

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.486_487del	ENSP00000413056.2:p.Asp164SerfsTer?
ENST00000703922.1:c.486_487del	ENSP00000515557.1:p.Asp164SerfsTer?
ENST00000703923.1:c.399_400del	ENSP00000515558.1:p.Asp135SerfsTer?
ENST00000703924.1:c.486_487del	ENSP00000515559.1:p.Asp164SerfsTer?
ENST00000703978.1:c.573_574del	ENSP00000515600.1:p.Asp193SerfsTer?
ENST00000703979.1:n.437_438del
ENST00000262410.10:c.1749_1750del MANE Select	ENSP00000262410.6:p.Asp585SerfsTer?
ENST00000344290.10:c.1551_1552del	ENSP00000340820.6:p.Asp519SerfsTer?
ENST00000351559.10:c.573_574del	ENSP00000303214.7:p.Asp193SerfsTer?
ENST00000535772.6:c.486_487del	ENSP00000443028.2:p.Asp164SerfsTer?
ENST00000680542.1:c.486_487del	ENSP00000505258.1:p.Asp164SerfsTer?
ENST00000680674.1:c.399_400del	ENSP00000505478.1:p.Asp135SerfsTer?
ENST00000262410.9:c.1524_1525del	ENSP00000262410.5:p.Asp510SerfsTer?
ENST00000334239.12:c.399_400del	ENSP00000334886.8:p.Asp135SerfsTer?
ENST00000340799.9:c.486_487del	ENSP00000340438.5:p.Asp164SerfsTer?
ENST00000344290.9:c.1578_1579del	ENSP00000340820.5:p.Asp528SerfsTer?
ENST00000351559.9:c.573_574del	ENSP00000303214.7:p.Asp193SerfsTer?
ENST00000415613.6:c.1578_1579del	ENSP00000410838.2:p.Asp528SerfsTer?
ENST00000420682.6:c.486_487del	ENSP00000413056.2:p.Asp164SerfsTer?
ENST00000431008.7:c.573_574del	ENSP00000389250.3:p.Asp193SerfsTer?
ENST00000446361.7:c.399_400del	ENSP00000408975.3:p.Asp135SerfsTer?
ENST00000535772.5:c.573_574del	ENSP00000443028.1:p.Asp193SerfsTer?
ENST00000570299.5:n.527_528del
ENST00000571987.5:c.1524_1525del	ENSP00000458742.1:p.Asp510SerfsTer?
ENST00000574436.5:c.573_574del	ENSP00000460965.1:p.Asp193SerfsTer?
ENST00000576518.1:n.5858_5859del
NM_001123066.3:c.1578_1579del	NP_001116538.2:p.Asp528SerfsTer?
NM_001123067.3:c.486_487del	NP_001116539.1:p.Asp164SerfsTer?
NM_001203251.1:c.486_487del	NP_001190180.1:p.Asp164SerfsTer?
NM_001203252.1:c.573_574del	NP_001190181.1:p.Asp193SerfsTer?
NM_005910.5:c.573_574del	NP_005901.2:p.Asp193SerfsTer?
NM_016834.4:c.399_400del	NP_058518.1:p.Asp135SerfsTer?
NM_016835.4:c.1524_1525del	NP_058519.3:p.Asp510SerfsTer?
NM_016841.4:c.399_400del	NP_058525.1:p.Asp135SerfsTer?
XM_005257362.3:c.1836_1837del	XP_005257419.1:p.Asp614SerfsTer?
XM_005257364.3:c.1749_1750del	XP_005257421.1:p.Asp585SerfsTer?
XM_005257365.3:c.1836_1837del	XP_005257422.1:p.Asp614SerfsTer?
XM_005257366.2:c.1662_1663del	XP_005257423.1:p.Asp556SerfsTer?
XM_005257367.3:c.1638_1639del	XP_005257424.1:p.Asp548SerfsTer?
XM_005257368.3:c.1638_1639del	XP_005257425.1:p.Asp548SerfsTer?
XM_005257369.3:c.771_772del	XP_005257426.1:p.Asp259SerfsTer?
XM_005257370.3:c.684_685del	XP_005257427.1:p.Asp230SerfsTer?
XM_005257371.3:c.597_598del	XP_005257428.1:p.Asp201SerfsTer?
XM_005257362.4:c.1836_1837del	XP_005257419.1:p.Asp614SerfsTer?
XM_005257364.4:c.1749_1750del	XP_005257421.1:p.Asp585SerfsTer?
XM_005257365.4:c.1836_1837del	XP_005257422.1:p.Asp614SerfsTer?
XM_005257366.3:c.1662_1663del	XP_005257423.1:p.Asp556SerfsTer?
XM_005257367.4:c.1638_1639del	XP_005257424.1:p.Asp548SerfsTer?
XM_005257368.4:c.1638_1639del	XP_005257425.1:p.Asp548SerfsTer?
XM_005257369.4:c.771_772del	XP_005257426.1:p.Asp259SerfsTer?
XM_005257370.4:c.684_685del	XP_005257427.1:p.Asp230SerfsTer?
XM_005257371.4:c.597_598del	XP_005257428.1:p.Asp201SerfsTer?
NM_001203251.2:c.486_487del	NP_001190180.1:p.Asp164SerfsTer?
NM_001377265.1:c.1749_1750del MANE Select	NP_001364194.1:p.Asp585SerfsTer?
NM_001377266.1:c.1551_1552del	NP_001364195.1:p.Asp519SerfsTer?
NM_001377267.1:c.486_487del	NP_001364196.1:p.Asp164SerfsTer?
NM_001377268.1:c.399_400del	NP_001364197.1:p.Asp135SerfsTer?
NM_016834.5:c.399_400del	NP_058518.1:p.Asp135SerfsTer?
NM_016841.5:c.399_400del	NP_058525.1:p.Asp135SerfsTer?
NR_165166.1:n.591-94_591-93del
NM_001123066.4:c.1578_1579del	NP_001116538.2:p.Asp528SerfsTer?
NM_001123067.4:c.486_487del	NP_001116539.1:p.Asp164SerfsTer?
NM_001203252.2:c.573_574del	NP_001190181.1:p.Asp193SerfsTer?
NM_005910.6:c.573_574del	NP_005901.2:p.Asp193SerfsTer?
NM_016835.5:c.1524_1525del	NP_058519.3:p.Asp510SerfsTer?