Linked Data
dbSNP Id:
rs10593245
gnomAD v3:
17-45895048-CGTGTGTGTGT-C
gnomAD v4:
17-45895048-CGTGTGTGTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45895082_45895091del , CM000679.2:g.45895082_45895091del | GRCh38 |
| NC_000017.10:g.43972448_43972457del , CM000679.1:g.43972448_43972457del | GRCh37 |
| NC_000017.9:g.41328244_41328253del | NCBI36 |
| NG_007398.1:g.5621_5630del | |
| NG_007398.2:g.5620_5629del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420682.7:c.-18+396_-18+405del (MAPT) | ENSP00000413056.2:n.-18+396_-18+405del | |
| ENST00000703922.1:c.-18+396_-18+405del (MAPT) | ENSP00000515557.1:n.-18+396_-18+405del | |
| ENST00000703923.1:c.-18+396_-18+405del (MAPT) | ENSP00000515558.1:n.-18+396_-18+405del | |
| ENST00000703924.1:c.-18+396_-18+405del (MAPT) | ENSP00000515559.1:n.-18+396_-18+405del | |
| ENST00000703974.1:n.143+396_143+405del (MAPT) | ||
| ENST00000703975.1:n.114+396_114+405del (MAPT) | ||
| ENST00000703976.1:n.95+396_95+405del (MAPT) | ||
| ENST00000703977.1:n.24+396_24+405del (MAPT) | ||
| ENST00000703978.1:c.-18+396_-18+405del (MAPT) | ENSP00000515600.1:n.-18+396_-18+405del | |
| ENST00000262410.10:c.-18+396_-18+405del (MAPT) MANE Select | ENSP00000262410.6:n.-18+396_-18+405del | |
| ENST00000344290.10:c.-18+396_-18+405del (MAPT) | ENSP00000340820.6:n.-18+396_-18+405del | |
| ENST00000351559.10:c.-18+396_-18+405del (MAPT) | ENSP00000303214.7:n.-18+396_-18+405del | |
| ENST00000535772.6:c.-18+396_-18+405del (MAPT) | ENSP00000443028.2:n.-18+396_-18+405del | |
| ENST00000680542.1:c.-171+396_-171+405del (MAPT) | ENSP00000505258.1:n.-171+396_-171+405del | |
| ENST00000680674.1:c.-18+396_-18+405del (MAPT) | ENSP00000505478.1:n.-18+396_-18+405del | |
| ENST00000262410.9:c.-18+396_-18+405del (MAPT) | ENSP00000262410.5:n.-18+396_-18+405del | |
| ENST00000334239.12:c.-18+396_-18+405del (MAPT) | ENSP00000334886.8:n.-18+396_-18+405del | |
| ENST00000340799.9:c.-18+396_-18+405del (MAPT) | ENSP00000340438.5:n.-18+396_-18+405del | |
| ENST00000344290.9:c.-18+396_-18+405del (MAPT) | ENSP00000340820.5:n.-18+396_-18+405del | |
| ENST00000351559.9:c.-18+396_-18+405del (MAPT) | ENSP00000303214.7:n.-18+396_-18+405del | |
| ENST00000446361.7:c.-18+396_-18+405del (MAPT) | ENSP00000408975.3:n.-18+396_-18+405del | |
| ENST00000535772.5:c.-18+396_-18+405del (MAPT) | ENSP00000443028.1:n.-18+396_-18+405del | |
| ENST00000570299.5:n.111+396_111+405del (MAPT) | ||
| ENST00000571311.5:c.-18+396_-18+405del (MAPT) | ENSP00000460048.1:n.-18+396_-18+405del | |
| NM_001123066.3:c.-18+396_-18+405del (MAPT) | NP_001116538.2:n.-18+396_-18+405del | |
| NM_001123067.3:c.-18+396_-18+405del (MAPT) | NP_001116539.1:n.-18+396_-18+405del | |
| NM_001203251.1:c.-18+396_-18+405del (MAPT) | NP_001190180.1:n.-18+396_-18+405del | |
| NM_001203252.1:c.-18+396_-18+405del (MAPT) | NP_001190181.1:n.-18+396_-18+405del | |
| NM_005910.5:c.-18+396_-18+405del (MAPT) | NP_005901.2:n.-18+396_-18+405del | |
| NM_016834.4:c.-18+396_-18+405del (MAPT) | NP_058518.1:n.-18+396_-18+405del | |
| NM_016835.4:c.-18+396_-18+405del (MAPT) | NP_058519.3:n.-18+396_-18+405del | |
| NM_016841.4:c.-18+396_-18+405del (MAPT) | NP_058525.1:n.-18+396_-18+405del | |
| NR_024559.1:n.34+422_34+431del (MAPT-AS1) | ||
| XM_005257362.3:c.-18+396_-18+405del (MAPT) | XP_005257419.1:n.-18+396_-18+405del | |
| XM_005257364.3:c.-18+396_-18+405del (MAPT) | XP_005257421.1:n.-18+396_-18+405del | |
| XM_005257365.3:c.-18+396_-18+405del (MAPT) | XP_005257422.1:n.-18+396_-18+405del | |
| XM_005257366.2:c.-18+396_-18+405del (MAPT) | XP_005257423.1:n.-18+396_-18+405del | |
| XM_005257367.3:c.-18+396_-18+405del (MAPT) | XP_005257424.1:n.-18+396_-18+405del | |
| XM_005257368.3:c.-18+396_-18+405del (MAPT) | XP_005257425.1:n.-18+396_-18+405del | |
| XM_005257369.3:c.-18+396_-18+405del (MAPT) | XP_005257426.1:n.-18+396_-18+405del | |
| XM_005257370.3:c.-18+396_-18+405del (MAPT) | XP_005257427.1:n.-18+396_-18+405del | |
| XM_005257371.3:c.-18+396_-18+405del (MAPT) | XP_005257428.1:n.-18+396_-18+405del | |
| XM_005257362.4:c.-18+396_-18+405del (MAPT) | XP_005257419.1:n.-18+396_-18+405del | |
| XM_005257364.4:c.-18+396_-18+405del (MAPT) | XP_005257421.1:n.-18+396_-18+405del | |
| XM_005257365.4:c.-18+396_-18+405del (MAPT) | XP_005257422.1:n.-18+396_-18+405del | |
| XM_005257366.3:c.-18+396_-18+405del (MAPT) | XP_005257423.1:n.-18+396_-18+405del | |
| XM_005257367.4:c.-18+396_-18+405del (MAPT) | XP_005257424.1:n.-18+396_-18+405del | |
| XM_005257368.4:c.-18+396_-18+405del (MAPT) | XP_005257425.1:n.-18+396_-18+405del | |
| XM_005257369.4:c.-18+396_-18+405del (MAPT) | XP_005257426.1:n.-18+396_-18+405del | |
| XM_005257370.4:c.-18+396_-18+405del (MAPT) | XP_005257427.1:n.-18+396_-18+405del | |
| XM_005257371.4:c.-18+396_-18+405del (MAPT) | XP_005257428.1:n.-18+396_-18+405del | |
| NM_001203251.2:c.-18+396_-18+405del (MAPT) | NP_001190180.1:n.-18+396_-18+405del | |
| NM_001377265.1:c.-18+396_-18+405del (MAPT) MANE Select | NP_001364194.1:n.-18+396_-18+405del | |
| NM_001377266.1:c.-18+396_-18+405del (MAPT) | NP_001364195.1:n.-18+396_-18+405del | |
| NM_001377267.1:c.-18+396_-18+405del (MAPT) | NP_001364196.1:n.-18+396_-18+405del | |
| NM_001377268.1:c.-171+396_-171+405del (MAPT) | NP_001364197.1:n.-171+396_-171+405del | |
| NM_016834.5:c.-18+396_-18+405del (MAPT) | NP_058518.1:n.-18+396_-18+405del | |
| NM_016841.5:c.-18+396_-18+405del (MAPT) | NP_058525.1:n.-18+396_-18+405del | |
| NR_165166.1:n.133+396_133+405del (MAPT) | ||
| NM_001123066.4:c.-18+396_-18+405del (MAPT) | NP_001116538.2:n.-18+396_-18+405del | |
| NM_001123067.4:c.-18+396_-18+405del (MAPT) | NP_001116539.1:n.-18+396_-18+405del | |
| NM_001203252.2:c.-18+396_-18+405del (MAPT) | NP_001190181.1:n.-18+396_-18+405del | |
| NM_005910.6:c.-18+396_-18+405del (MAPT) | NP_005901.2:n.-18+396_-18+405del | |
| NM_016835.5:c.-18+396_-18+405del (MAPT) | NP_058519.3:n.-18+396_-18+405del |