Linked Data
dbSNP Id:
rs556405301
gnomAD v3:
3-10142341-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
3-10142341-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142361_10142362insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000665.2:g.10142361_10142362insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000003.11:g.10184045_10184046insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000665.1:g.10184045_10184046insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000003.10:g.10159045_10159046insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_008212.3:g.5727_5728insTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_322:g.5727_5728insTTTTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000512434.1:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000696143.1:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000512435.1:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000696153.1:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000512444.1:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000256474.3:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000256474.3:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000256474.2:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000256474.2:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000345392.2:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000344757.2:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_000551.3:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_322t1:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_000542.1:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_198156.2:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_937799.1:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_011534078.1:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011532380.1:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001354723.1:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001341652.1:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_000551.4:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_000542.1:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001354723.2:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001341652.1:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_198156.3:c.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_937799.1:n.340+174_340+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT |