Canonical Allele Identifier: CA772415202
Gene: MAPT HGNC NCBI

Linked Data

dbSNP Id: rs1191020275
gnomAD v3: 17-45979380-GAC-G
gnomAD v4: 17-45979380-GAC-G
MyVariant Identifiers: chr17:g.44056747_44056748del (hg19) chr17:g.45979381_45979382del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45979383_45979384del , CM000679.2:g.45979383_45979384del GRCh38
NC_000017.10:g.44056749_44056750del , CM000679.1:g.44056749_44056750del GRCh37
NC_000017.9:g.41412585_41412586del NCBI36
NG_007398.1:g.89962_89963del
NG_007398.2:g.89921_89922del

Transcript Alleles

HGVS Amino-acid change
ENST00000420682.7:c.286+943_286+944del ENSP00000413056.2:n.286+943_286+944del
ENST00000703922.1:c.286+943_286+944del ENSP00000515557.1:n.286+943_286+944del
ENST00000703923.1:c.199+943_199+944del ENSP00000515558.1:n.199+943_199+944del
ENST00000703924.1:c.286+943_286+944del ENSP00000515559.1:n.286+943_286+944del
ENST00000703975.1:n.330+943_330+944del
ENST00000703976.1:n.398+943_398+944del
ENST00000703977.1:n.240+943_240+944del
ENST00000703978.1:c.373+943_373+944del ENSP00000515600.1:n.373+943_373+944del
ENST00000703979.1:n.237+7438_237+7439del
ENST00000262410.10:c.286+943_286+944del MANE Select ENSP00000262410.6:n.286+943_286+944del
ENST00000344290.10:c.286+943_286+944del ENSP00000340820.6:n.286+943_286+944del
ENST00000351559.10:c.373+943_373+944del ENSP00000303214.7:n.373+943_373+944del
ENST00000535772.6:c.286+943_286+944del ENSP00000443028.2:n.286+943_286+944del
ENST00000680542.1:c.286+943_286+944del ENSP00000505258.1:n.286+943_286+944del
ENST00000680674.1:c.199+943_199+944del ENSP00000505478.1:n.199+943_199+944del
ENST00000262410.9:c.373+943_373+944del ENSP00000262410.5:n.373+943_373+944del
ENST00000334239.12:c.199+943_199+944del ENSP00000334886.8:n.199+943_199+944del
ENST00000340799.9:c.286+943_286+944del ENSP00000340438.5:n.286+943_286+944del
ENST00000344290.9:c.373+943_373+944del ENSP00000340820.5:n.373+943_373+944del
ENST00000351559.9:c.373+943_373+944del ENSP00000303214.7:n.373+943_373+944del
ENST00000415613.6:c.373+943_373+944del ENSP00000410838.2:n.373+943_373+944del
ENST00000420682.6:c.286+943_286+944del ENSP00000413056.2:n.286+943_286+944del
ENST00000431008.7:c.373+943_373+944del ENSP00000389250.3:n.373+943_373+944del
ENST00000446361.7:c.199+943_199+944del ENSP00000408975.3:n.199+943_199+944del
ENST00000535772.5:c.373+943_373+944del ENSP00000443028.1:n.373+943_373+944del
ENST00000570299.5:n.327+943_327+944del
ENST00000571987.5:c.373+943_373+944del ENSP00000458742.1:n.373+943_373+944del
ENST00000572440.1:n.3892_3893del
ENST00000574436.5:c.373+943_373+944del ENSP00000460965.1:n.373+943_373+944del
ENST00000576518.1:n.5658+943_5658+944del
NM_001123066.3:c.373+943_373+944del NP_001116538.2:n.373+943_373+944del
NM_001123067.3:c.286+943_286+944del NP_001116539.1:n.286+943_286+944del
NM_001203251.1:c.286+943_286+944del NP_001190180.1:n.286+943_286+944del
NM_001203252.1:c.373+943_373+944del NP_001190181.1:n.373+943_373+944del
NM_005910.5:c.373+943_373+944del NP_005901.2:n.373+943_373+944del
NM_016834.4:c.199+943_199+944del NP_058518.1:n.199+943_199+944del
NM_016835.4:c.373+943_373+944del NP_058519.3:n.373+943_373+944del
NM_016841.4:c.199+943_199+944del NP_058525.1:n.199+943_199+944del
XM_005257362.3:c.373+943_373+944del XP_005257419.1:n.373+943_373+944del
XM_005257364.3:c.286+943_286+944del XP_005257421.1:n.286+943_286+944del
XM_005257365.3:c.373+943_373+944del XP_005257422.1:n.373+943_373+944del
XM_005257366.2:c.199+943_199+944del XP_005257423.1:n.199+943_199+944del
XM_005257367.3:c.373+943_373+944del XP_005257424.1:n.373+943_373+944del
XM_005257368.3:c.373+943_373+944del XP_005257425.1:n.373+943_373+944del
XM_005257369.3:c.373+943_373+944del XP_005257426.1:n.373+943_373+944del
XM_005257370.3:c.286+943_286+944del XP_005257427.1:n.286+943_286+944del
XM_005257371.3:c.199+943_199+944del XP_005257428.1:n.199+943_199+944del
XM_005257362.4:c.373+943_373+944del XP_005257419.1:n.373+943_373+944del
XM_005257364.4:c.286+943_286+944del XP_005257421.1:n.286+943_286+944del
XM_005257365.4:c.373+943_373+944del XP_005257422.1:n.373+943_373+944del
XM_005257366.3:c.199+943_199+944del XP_005257423.1:n.199+943_199+944del
XM_005257367.4:c.373+943_373+944del XP_005257424.1:n.373+943_373+944del
XM_005257368.4:c.373+943_373+944del XP_005257425.1:n.373+943_373+944del
XM_005257369.4:c.373+943_373+944del XP_005257426.1:n.373+943_373+944del
XM_005257370.4:c.286+943_286+944del XP_005257427.1:n.286+943_286+944del
XM_005257371.4:c.199+943_199+944del XP_005257428.1:n.199+943_199+944del
NM_001203251.2:c.286+943_286+944del NP_001190180.1:n.286+943_286+944del
NM_001377265.1:c.286+943_286+944del MANE Select NP_001364194.1:n.286+943_286+944del
NM_001377266.1:c.286+943_286+944del NP_001364195.1:n.286+943_286+944del
NM_001377267.1:c.286+943_286+944del NP_001364196.1:n.286+943_286+944del
NM_001377268.1:c.199+943_199+944del NP_001364197.1:n.199+943_199+944del
NM_016834.5:c.199+943_199+944del NP_058518.1:n.199+943_199+944del
NM_016841.5:c.199+943_199+944del NP_058525.1:n.199+943_199+944del
NR_165166.1:n.436+943_436+944del
NM_001123066.4:c.373+943_373+944del NP_001116538.2:n.373+943_373+944del
NM_001123067.4:c.286+943_286+944del NP_001116539.1:n.286+943_286+944del
NM_001203252.2:c.373+943_373+944del NP_001190181.1:n.373+943_373+944del
NM_005910.6:c.373+943_373+944del NP_005901.2:n.373+943_373+944del
NM_016835.5:c.373+943_373+944del NP_058519.3:n.373+943_373+944del
Search 100 bp 5'
Search 100 bp 3'