Linked Data
dbSNP Id:
rs1290685108
gnomAD v2:
3-30691014-GTAGT-G
gnomAD v3:
3-30649522-GTAGT-G
gnomAD v4:
3-30649522-GTAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30649528_30649531del , CM000665.2:g.30649528_30649531del | GRCh38 |
| NC_000003.11:g.30691020_30691023del , CM000665.1:g.30691020_30691023del | GRCh37 |
| NC_000003.10:g.30666024_30666027del | NCBI36 |
| NG_007490.1:g.48027_48030del , LRG_779:g.48027_48030del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.264-742_264-739del MANE Select | ENSP00000295754.5:n.264-742_264-739del | |
| ENST00000672866.1:n.1860-742_1860-739del | ||
| ENST00000673250.1:n.388-742_388-739del | ||
| ENST00000295754.9:c.264-742_264-739del | ENSP00000295754.5:n.264-742_264-739del | |
| ENST00000359013.4:c.339-742_339-739del | ENSP00000351905.4:n.339-742_339-739del | |
| NM_001024847.2:c.339-742_339-739del , LRG_779t1:c.339-742_339-739del | NP_001020018.1:n.339-742_339-739del | |
| NM_003242.5:c.264-742_264-739del | NP_003233.4:n.264-742_264-739del | |
| XM_011534043.1:c.291-742_291-739del | XP_011532345.1:n.291-742_291-739del | |
| XM_011534044.1:c.216-742_216-739del | XP_011532346.1:n.216-742_216-739del | |
| XM_011534045.1:c.159-742_159-739del | XP_011532347.1:n.159-742_159-739del | |
| XM_011534043.2:c.291-742_291-739del | XP_011532345.1:n.291-742_291-739del | |
| XM_011534045.3:c.159-742_159-739del | XP_011532347.1:n.159-742_159-739del | |
| XM_017007106.1:c.159-742_159-739del | XP_016862595.1:n.159-742_159-739del | |
| NM_003242.6:c.264-742_264-739del MANE Select | NP_003233.4:n.264-742_264-739del |