Canonical Allele Identifier: CA772439506

Gene: MAPT

Linked Data

• dbSNP Id: rs1462949510
• gnomAD v4: 17-46014210-TTCCTC-T
• MyVariant Identifiers: chr17:g.44091577_44091581del (hg19) ; chr17:g.46014211_46014215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46014212_46014216del , CM000679.2:g.46014212_46014216del	GRCh38
NC_000017.10:g.44091578_44091582del , CM000679.1:g.44091578_44091582del	GRCh37
NC_000017.9:g.41447415_41447419del	NCBI36
NG_007398.1:g.124792_124796del
NG_007398.2:g.124750_124754del

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.829-31_829-27del	ENSP00000413056.2:n.829-31_829-27del
ENST00000703922.1:c.829-31_829-27del	ENSP00000515557.1:n.829-31_829-27del
ENST00000703923.1:c.742-31_742-27del	ENSP00000515558.1:n.742-31_742-27del
ENST00000703924.1:c.829-31_829-27del	ENSP00000515559.1:n.829-31_829-27del
ENST00000703978.1:c.916-31_916-27del	ENSP00000515600.1:n.916-31_916-27del
ENST00000703979.1:n.687-31_687-27del
ENST00000703980.1:n.142-31_142-27del
ENST00000703981.1:n.85-31_85-27del
ENST00000262410.10:c.2092-31_2092-27del MANE Select	ENSP00000262410.6:n.2092-31_2092-27del
ENST00000344290.10:c.1801-31_1801-27del	ENSP00000340820.6:n.1801-31_1801-27del
ENST00000351559.10:c.916-31_916-27del	ENSP00000303214.7:n.916-31_916-27del
ENST00000535772.6:c.736-31_736-27del	ENSP00000443028.2:n.736-31_736-27del
ENST00000680542.1:c.829-31_829-27del	ENSP00000505258.1:n.829-31_829-27del
ENST00000680674.1:c.742-31_742-27del	ENSP00000505478.1:n.742-31_742-27del
ENST00000262410.9:c.1867-31_1867-27del	ENSP00000262410.5:n.1867-31_1867-27del
ENST00000334239.12:c.649-31_649-27del	ENSP00000334886.8:n.649-31_649-27del
ENST00000340799.9:c.829-31_829-27del	ENSP00000340438.5:n.829-31_829-27del
ENST00000344290.9:c.1921-31_1921-27del	ENSP00000340820.5:n.1921-31_1921-27del
ENST00000351559.9:c.916-31_916-27del	ENSP00000303214.7:n.916-31_916-27del
ENST00000415613.6:c.1921-31_1921-27del	ENSP00000410838.2:n.1921-31_1921-27del
ENST00000420682.6:c.829-31_829-27del	ENSP00000413056.2:n.829-31_829-27del
ENST00000431008.7:c.823-31_823-27del	ENSP00000389250.3:n.823-31_823-27del
ENST00000446361.7:c.742-31_742-27del	ENSP00000408975.3:n.742-31_742-27del
ENST00000535772.5:c.823-31_823-27del	ENSP00000443028.1:n.823-31_823-27del
ENST00000570299.5:n.777-4406_777-4402del
ENST00000571987.5:c.1867-31_1867-27del	ENSP00000458742.1:n.1867-31_1867-27del
ENST00000574436.5:c.916-31_916-27del	ENSP00000460965.1:n.916-31_916-27del
ENST00000576518.1:n.6108-31_6108-27del
NM_001123066.3:c.1921-31_1921-27del	NP_001116538.2:n.1921-31_1921-27del
NM_001123067.3:c.829-31_829-27del	NP_001116539.1:n.829-31_829-27del
NM_001203251.1:c.736-31_736-27del	NP_001190180.1:n.736-31_736-27del
NM_001203252.1:c.823-31_823-27del	NP_001190181.1:n.823-31_823-27del
NM_005910.5:c.916-31_916-27del	NP_005901.2:n.916-31_916-27del
NM_016834.4:c.742-31_742-27del	NP_058518.1:n.742-31_742-27del
NM_016835.4:c.1867-31_1867-27del	NP_058519.3:n.1867-31_1867-27del
NM_016841.4:c.649-31_649-27del	NP_058525.1:n.649-31_649-27del
XM_005257362.3:c.2179-31_2179-27del	XP_005257419.1:n.2179-31_2179-27del
XM_005257364.3:c.2092-31_2092-27del	XP_005257421.1:n.2092-31_2092-27del
XM_005257365.3:c.2086-31_2086-27del	XP_005257422.1:n.2086-31_2086-27del
XM_005257366.2:c.2005-31_2005-27del	XP_005257423.1:n.2005-31_2005-27del
XM_005257367.3:c.1981-31_1981-27del	XP_005257424.1:n.1981-31_1981-27del
XM_005257368.3:c.1888-31_1888-27del	XP_005257425.1:n.1888-31_1888-27del
XM_005257369.3:c.1114-31_1114-27del	XP_005257426.1:n.1114-31_1114-27del
XM_005257370.3:c.1027-31_1027-27del	XP_005257427.1:n.1027-31_1027-27del
XM_005257371.3:c.940-31_940-27del	XP_005257428.1:n.940-31_940-27del
XM_005257362.4:c.2179-31_2179-27del	XP_005257419.1:n.2179-31_2179-27del
XM_005257364.4:c.2092-31_2092-27del	XP_005257421.1:n.2092-31_2092-27del
XM_005257365.4:c.2086-31_2086-27del	XP_005257422.1:n.2086-31_2086-27del
XM_005257366.3:c.2005-31_2005-27del	XP_005257423.1:n.2005-31_2005-27del
XM_005257367.4:c.1981-31_1981-27del	XP_005257424.1:n.1981-31_1981-27del
XM_005257368.4:c.1888-31_1888-27del	XP_005257425.1:n.1888-31_1888-27del
XM_005257369.4:c.1114-31_1114-27del	XP_005257426.1:n.1114-31_1114-27del
XM_005257370.4:c.1027-31_1027-27del	XP_005257427.1:n.1027-31_1027-27del
XM_005257371.4:c.940-31_940-27del	XP_005257428.1:n.940-31_940-27del
NM_001203251.2:c.736-31_736-27del	NP_001190180.1:n.736-31_736-27del
NM_001377265.1:c.2092-31_2092-27del MANE Select	NP_001364194.1:n.2092-31_2092-27del
NM_001377266.1:c.1801-31_1801-27del	NP_001364195.1:n.1801-31_1801-27del
NM_001377267.1:c.736-31_736-27del	NP_001364196.1:n.736-31_736-27del
NM_001377268.1:c.649-31_649-27del	NP_001364197.1:n.649-31_649-27del
NM_016834.5:c.742-31_742-27del	NP_058518.1:n.742-31_742-27del
NM_016841.5:c.649-31_649-27del	NP_058525.1:n.649-31_649-27del
NR_165166.1:n.747-31_747-27del
NM_001123066.4:c.1921-31_1921-27del	NP_001116538.2:n.1921-31_1921-27del
NM_001123067.4:c.829-31_829-27del	NP_001116539.1:n.829-31_829-27del
NM_001203252.2:c.823-31_823-27del	NP_001190181.1:n.823-31_823-27del
NM_005910.6:c.916-31_916-27del	NP_005901.2:n.916-31_916-27del
NM_016835.5:c.1867-31_1867-27del	NP_058519.3:n.1867-31_1867-27del