Linked Data
dbSNP Id:
rs1259013819
gnomAD v2:
1-197390474-TCAGTTTG-T
gnomAD v4:
1-197421344-TCAGTTTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421345_197421351del , CM000663.2:g.197421345_197421351del | GRCh38 |
| NC_000001.10:g.197390475_197390481del , CM000663.1:g.197390475_197390481del | GRCh37 |
| NC_000001.9:g.195657098_195657104del | NCBI36 |
| NG_008483.1:g.158068_158074del | |
| NG_008483.2:g.224884_224890del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1517_1523del MANE Select | ENSP00000356370.3:p.Ser506LeufsTer3 | |
| ENST00000638467.1:c.1517_1523del | ENSP00000491102.1:p.Ser506LeufsTer3 | |
| ENST00000681519.1:c.398_404del | ENSP00000505267.1:p.Ser133LeufsTer3 | |
| ENST00000367397.1:c.-341_-335del | ENSP00000356367.1:n.-341_-335del | |
| ENST00000367399.6:c.1181_1187del | ENSP00000356369.2:p.Ser394LeufsTer3 | |
| ENST00000367400.7:c.1517_1523del | ENSP00000356370.3:p.Ser506LeufsTer3 | |
| ENST00000476483.1:n.477_483del | ||
| ENST00000484075.5:c.1517_1523del | ENSP00000433932.1:p.Ser506LeufsTer3 | |
| ENST00000535699.5:c.1310_1316del | ENSP00000438786.1:p.Ser437LeufsTer3 | |
| ENST00000538660.5:c.1517_1523del | ENSP00000438091.1:p.Ser506LeufsTer3 | |
| NM_001193640.1:c.1181_1187del | NP_001180569.1:p.Ser394LeufsTer3 | |
| NM_001257965.1:c.1310_1316del | NP_001244894.1:p.Ser437LeufsTer3 | |
| NM_001257966.1:c.1517_1523del | NP_001244895.1:p.Ser506LeufsTer3 | |
| NM_201253.2:c.1517_1523del | NP_957705.1:p.Ser506LeufsTer3 | |
| NR_047563.1:n.1726_1732del | ||
| NR_047564.1:n.1726_1732del | ||
| XM_011509365.1:c.1517_1523del | XP_011507667.1:p.Ser506LeufsTer3 | |
| XM_011509366.1:c.1517_1523del | XP_011507668.1:p.Ser506LeufsTer3 | |
| XM_011509367.1:c.1517_1523del | XP_011507669.1:p.Ser506LeufsTer3 | |
| XM_011509368.1:c.935_941del | XP_011507670.1:p.Ser312LeufsTer3 | |
| XM_011509369.1:c.-41_-35del | XP_011507671.1:n.-41_-35del | |
| XM_011509365.2:c.1517_1523del | XP_011507667.1:p.Ser506LeufsTer3 | |
| XM_011509369.2:c.-41_-35del | XP_011507671.1:n.-41_-35del | |
| XM_017000851.1:c.674_680del | XP_016856340.1:p.Ser225LeufsTer3 | |
| XM_017000852.1:c.1517_1523del | XP_016856341.1:p.Ser506LeufsTer3 | |
| NM_201253.3:c.1517_1523del MANE Select | NP_957705.1:p.Ser506LeufsTer3 | |
| NM_001193640.2:c.1181_1187del | NP_001180569.1:p.Ser394LeufsTer3 | |
| NM_001257965.2:c.1310_1316del | NP_001244894.1:p.Ser437LeufsTer3 | |
| NR_047563.2:n.1678_1684del | ||
| NR_047564.2:n.1678_1684del | ||
| NM_001257966.2:c.1517_1523del | NP_001244895.1:p.Ser506LeufsTer3 |