Canonical Allele Identifier: CA225429
Community Standard Title: NM_001377265.1(MAPT):c.2017_2019del (p.Lys673del)
Gene: MAPT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46010328_46010330del , CM000679.2:g.46010328_46010330del GRCh38
NC_000017.10:g.44087694_44087696del , CM000679.1:g.44087694_44087696del GRCh37
NC_000017.9:g.41443531_41443533del NCBI36
NG_007398.1:g.120908_120910del
NG_007398.2:g.120866_120868del

Transcript Alleles

HGVS Amino-acid Change
NM_001377265.1:c.2017_2019del MANE Select NP_001364194.1:p.Lys673del
ENST00000262410.10:c.2017_2019del MANE Select ENSP00000262410.6:p.Lys673del
NM_001123066.3:c.1846_1848del NP_001116538.2:p.Lys616del
NM_001123066.4:c.1846_1848del NP_001116538.2:p.Lys616del
NM_001123067.3:c.754_756del NP_001116539.1:p.Lys252del
NM_001123067.4:c.754_756del NP_001116539.1:p.Lys252del
NM_001203251.1:c.736-3915_736-3913del NP_001190180.1:n.736-3915_736-3913del
NM_001203251.2:c.736-3915_736-3913del NP_001190180.1:n.736-3915_736-3913del
NM_001203252.1:c.823-3915_823-3913del NP_001190181.1:n.823-3915_823-3913del
NM_001203252.2:c.823-3915_823-3913del NP_001190181.1:n.823-3915_823-3913del
NM_001377266.1:c.1801-3915_1801-3913del NP_001364195.1:n.1801-3915_1801-3913del
NM_001377267.1:c.736-3915_736-3913del NP_001364196.1:n.736-3915_736-3913del
NM_001377268.1:c.649-3915_649-3913del NP_001364197.1:n.649-3915_649-3913del
NM_005910.5:c.841_843del NP_005901.2:p.Lys281del
NM_005910.6:c.841_843del NP_005901.2:p.Lys281del
NM_016834.4:c.667_669del NP_058518.1:p.Lys223del
NM_016834.5:c.667_669del NP_058518.1:p.Lys223del
NM_016835.4:c.1792_1794del NP_058519.3:p.Lys598del
NM_016835.5:c.1792_1794del NP_058519.3:p.Lys598del
NM_016841.4:c.649-3915_649-3913del NP_058525.1:n.649-3915_649-3913del
NM_016841.5:c.649-3915_649-3913del NP_058525.1:n.649-3915_649-3913del
NR_165166.1:n.747-3915_747-3913del
ENST00000262410.9:c.1792_1794del ENSP00000262410.5:p.Lys598del
ENST00000334239.12:c.649-3915_649-3913del ENSP00000334886.8:n.649-3915_649-3913del
ENST00000340799.9:c.754_756del ENSP00000340438.5:p.Lys252del
ENST00000344290.10:c.1801-3915_1801-3913del ENSP00000340820.6:n.1801-3915_1801-3913del
ENST00000344290.9:c.1846_1848del ENSP00000340820.5:p.Lys616del
ENST00000351559.10:c.841_843del ENSP00000303214.7:p.Lys281del
ENST00000351559.9:c.841_843del ENSP00000303214.7:p.Lys281del
ENST00000415613.6:c.1846_1848del ENSP00000410838.2:p.Lys616del
ENST00000420682.6:c.754_756del ENSP00000413056.2:p.Lys252del
ENST00000420682.7:c.754_756del ENSP00000413056.2:p.Lys252del
ENST00000431008.7:c.823-3915_823-3913del ENSP00000389250.3:n.823-3915_823-3913del
ENST00000446361.7:c.667_669del ENSP00000408975.3:p.Lys223del
ENST00000535772.5:c.823-3915_823-3913del ENSP00000443028.1:n.823-3915_823-3913del
ENST00000535772.6:c.736-3915_736-3913del ENSP00000443028.2:n.736-3915_736-3913del
ENST00000570299.5:n.777-8290_777-8288del
ENST00000571987.5:c.1792_1794del ENSP00000458742.1:p.Lys598del
ENST00000574436.5:c.841_843del ENSP00000460965.1:p.Lys281del
ENST00000576518.1:n.6108-3915_6108-3913del
ENST00000680542.1:c.754_756del ENSP00000505258.1:p.Lys252del
ENST00000680674.1:c.667_669del ENSP00000505478.1:p.Lys223del
ENST00000703922.1:c.754_756del ENSP00000515557.1:p.Lys252del
ENST00000703923.1:c.667_669del ENSP00000515558.1:p.Lys223del
ENST00000703924.1:c.754_756del ENSP00000515559.1:p.Lys252del
ENST00000703978.1:c.841_843del ENSP00000515600.1:p.Lys281del
ENST00000703979.1:n.687-3915_687-3913del
ENST00000703980.1:n.67_69del
ENST00000703981.1:n.10_12del
XM_005257362.3:c.2104_2106del XP_005257419.1:p.Lys702del
XM_005257362.4:c.2104_2106del XP_005257419.1:p.Lys702del
XM_005257364.3:c.2017_2019del XP_005257421.1:p.Lys673del
XM_005257364.4:c.2017_2019del XP_005257421.1:p.Lys673del
XM_005257365.3:c.2086-3915_2086-3913del XP_005257422.1:n.2086-3915_2086-3913del
XM_005257365.4:c.2086-3915_2086-3913del XP_005257422.1:n.2086-3915_2086-3913del
XM_005257366.2:c.1930_1932del XP_005257423.1:p.Lys644del
XM_005257366.3:c.1930_1932del XP_005257423.1:p.Lys644del
XM_005257367.3:c.1906_1908del XP_005257424.1:p.Lys636del
XM_005257367.4:c.1906_1908del XP_005257424.1:p.Lys636del
XM_005257368.3:c.1888-3915_1888-3913del XP_005257425.1:n.1888-3915_1888-3913del
XM_005257368.4:c.1888-3915_1888-3913del XP_005257425.1:n.1888-3915_1888-3913del
XM_005257369.3:c.1039_1041del XP_005257426.1:p.Lys347del
XM_005257369.4:c.1039_1041del XP_005257426.1:p.Lys347del
XM_005257370.3:c.952_954del XP_005257427.1:p.Lys318del
XM_005257370.4:c.952_954del XP_005257427.1:p.Lys318del
XM_005257371.3:c.865_867del XP_005257428.1:p.Lys289del
XM_005257371.4:c.865_867del XP_005257428.1:p.Lys289del