Canonical Allele Identifier: CA984128594

Gene: MAPT

Linked Data

• dbSNP Id: rs2076328041
• gnomAD v3: 17-46018483-CCAATCT-C
• gnomAD v4: 17-46018483-CCAATCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018484_46018489del , CM000679.2:g.46018484_46018489del	GRCh38
NC_000017.10:g.44095850_44095855del , CM000679.1:g.44095850_44095855del	GRCh37
NC_000017.9:g.41451697_41451702del	NCBI36
NG_007398.1:g.129074_129079del
NG_007398.2:g.129022_129027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.911-134_911-129del	ENSP00000413056.2:n.911-134_911-129del
ENST00000703922.1:c.911-134_911-129del	ENSP00000515557.1:n.911-134_911-129del
ENST00000703923.1:c.824-134_824-129del	ENSP00000515558.1:n.824-134_824-129del
ENST00000703924.1:c.911-134_911-129del	ENSP00000515559.1:n.911-134_911-129del
ENST00000703978.1:c.998-134_998-129del	ENSP00000515600.1:n.998-134_998-129del
ENST00000703979.1:n.769-134_769-129del
ENST00000703980.1:n.224-134_224-129del
ENST00000703981.1:n.182-134_182-129del
ENST00000703982.1:n.282_287del
ENST00000262410.10:c.2174-134_2174-129del MANE Select	ENSP00000262410.6:n.2174-134_2174-129del
ENST00000344290.10:c.1883-134_1883-129del	ENSP00000340820.6:n.1883-134_1883-129del
ENST00000351559.10:c.998-134_998-129del	ENSP00000303214.7:n.998-134_998-129del
ENST00000535772.6:c.818-134_818-129del	ENSP00000443028.2:n.818-134_818-129del
ENST00000680542.1:c.911-134_911-129del	ENSP00000505258.1:n.911-134_911-129del
ENST00000680674.1:c.947-134_947-129del	ENSP00000505478.1:n.947-134_947-129del
ENST00000262410.9:c.1949-134_1949-129del	ENSP00000262410.5:n.1949-134_1949-129del
ENST00000334239.12:c.731-134_731-129del	ENSP00000334886.8:n.731-134_731-129del
ENST00000340799.9:c.911-134_911-129del	ENSP00000340438.5:n.911-134_911-129del
ENST00000344290.9:c.2003-134_2003-129del	ENSP00000340820.5:n.2003-134_2003-129del
ENST00000351559.9:c.998-134_998-129del	ENSP00000303214.7:n.998-134_998-129del
ENST00000415613.6:c.2003-134_2003-129del	ENSP00000410838.2:n.2003-134_2003-129del
ENST00000420682.6:c.911-134_911-129del	ENSP00000413056.2:n.911-134_911-129del
ENST00000431008.7:c.905-134_905-129del	ENSP00000389250.3:n.905-134_905-129del
ENST00000446361.7:c.824-134_824-129del	ENSP00000408975.3:n.824-134_824-129del
ENST00000535772.5:c.905-134_905-129del	ENSP00000443028.1:n.905-134_905-129del
ENST00000570299.5:n.777-134_777-129del
ENST00000571987.5:c.1949-134_1949-129del	ENSP00000458742.1:n.1949-134_1949-129del
ENST00000574436.5:c.998-134_998-129del	ENSP00000460965.1:n.998-134_998-129del
ENST00000576518.1:n.6190-134_6190-129del
NM_001123066.3:c.2003-134_2003-129del	NP_001116538.2:n.2003-134_2003-129del
NM_001123067.3:c.911-134_911-129del	NP_001116539.1:n.911-134_911-129del
NM_001203251.1:c.818-134_818-129del	NP_001190180.1:n.818-134_818-129del
NM_001203252.1:c.905-134_905-129del	NP_001190181.1:n.905-134_905-129del
NM_005910.5:c.998-134_998-129del	NP_005901.2:n.998-134_998-129del
NM_016834.4:c.824-134_824-129del	NP_058518.1:n.824-134_824-129del
NM_016835.4:c.1949-134_1949-129del	NP_058519.3:n.1949-134_1949-129del
NM_016841.4:c.731-134_731-129del	NP_058525.1:n.731-134_731-129del
XM_005257362.3:c.2261-134_2261-129del	XP_005257419.1:n.2261-134_2261-129del
XM_005257364.3:c.2174-134_2174-129del	XP_005257421.1:n.2174-134_2174-129del
XM_005257365.3:c.2168-134_2168-129del	XP_005257422.1:n.2168-134_2168-129del
XM_005257366.2:c.2087-134_2087-129del	XP_005257423.1:n.2087-134_2087-129del
XM_005257367.3:c.2063-134_2063-129del	XP_005257424.1:n.2063-134_2063-129del
XM_005257368.3:c.1970-134_1970-129del	XP_005257425.1:n.1970-134_1970-129del
XM_005257369.3:c.1196-134_1196-129del	XP_005257426.1:n.1196-134_1196-129del
XM_005257370.3:c.1109-134_1109-129del	XP_005257427.1:n.1109-134_1109-129del
XM_005257371.3:c.1022-134_1022-129del	XP_005257428.1:n.1022-134_1022-129del
XM_005257362.4:c.2261-134_2261-129del	XP_005257419.1:n.2261-134_2261-129del
XM_005257364.4:c.2174-134_2174-129del	XP_005257421.1:n.2174-134_2174-129del
XM_005257365.4:c.2168-134_2168-129del	XP_005257422.1:n.2168-134_2168-129del
XM_005257366.3:c.2087-134_2087-129del	XP_005257423.1:n.2087-134_2087-129del
XM_005257367.4:c.2063-134_2063-129del	XP_005257424.1:n.2063-134_2063-129del
XM_005257368.4:c.1970-134_1970-129del	XP_005257425.1:n.1970-134_1970-129del
XM_005257369.4:c.1196-134_1196-129del	XP_005257426.1:n.1196-134_1196-129del
XM_005257370.4:c.1109-134_1109-129del	XP_005257427.1:n.1109-134_1109-129del
XM_005257371.4:c.1022-134_1022-129del	XP_005257428.1:n.1022-134_1022-129del
NM_001203251.2:c.818-134_818-129del	NP_001190180.1:n.818-134_818-129del
NM_001377265.1:c.2174-134_2174-129del MANE Select	NP_001364194.1:n.2174-134_2174-129del
NM_001377266.1:c.1883-134_1883-129del	NP_001364195.1:n.1883-134_1883-129del
NM_001377267.1:c.771+4206_771+4211del	NP_001364196.1:n.771+4206_771+4211del
NM_001377268.1:c.731-134_731-129del	NP_001364197.1:n.731-134_731-129del
NM_016834.5:c.824-134_824-129del	NP_058518.1:n.824-134_824-129del
NM_016841.5:c.731-134_731-129del	NP_058525.1:n.731-134_731-129del
NR_165166.1:n.829-134_829-129del
NM_001123066.4:c.2003-134_2003-129del	NP_001116538.2:n.2003-134_2003-129del
NM_001123067.4:c.911-134_911-129del	NP_001116539.1:n.911-134_911-129del
NM_001203252.2:c.905-134_905-129del	NP_001190181.1:n.905-134_905-129del
NM_005910.6:c.998-134_998-129del	NP_005901.2:n.998-134_998-129del
NM_016835.5:c.1949-134_1949-129del	NP_058519.3:n.1949-134_1949-129del