Linked Data
gnomAD v4:
3-128909372-CCTA-C
MyVariant Identifiers:
chr3:g.128628216_128628218del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128909375_128909377del , CM000665.2:g.128909375_128909377del | GRCh38 |
| NC_000003.11:g.128628218_128628220del , CM000665.1:g.128628218_128628220del | GRCh37 |
| NC_000003.10:g.130110908_130110910del | NCBI36 |
| NG_017064.1:g.34886_34888del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.1517_1519del MANE Select | ENSP00000312618.7:p.Tyr506del | |
| ENST00000511325.2:n.1595_1597del | ||
| ENST00000679399.1:c.*1688_*1690del | ENSP00000505434.1:n.*1688_*1690del | |
| ENST00000679431.1:c.*1393_*1395del | ENSP00000506440.1:n.*1393_*1395del | |
| ENST00000679613.1:c.1517_1519del | ENSP00000504971.1:p.Tyr506del | |
| ENST00000679715.1:c.1148_1150del | ENSP00000506228.1:p.Tyr383del | |
| ENST00000679824.1:c.*2823_*2825del | ENSP00000505516.1:n.*2823_*2825del | |
| ENST00000679990.1:n.1752_1754del | ||
| ENST00000680636.1:c.1517_1519del | ENSP00000504886.1:p.Tyr506del | |
| ENST00000680638.1:n.1270_1272del | ||
| ENST00000680744.1:c.*870_*872del | ENSP00000505243.1:n.*870_*872del | |
| ENST00000680764.1:c.*2921_*2923del | ENSP00000505126.1:n.*2921_*2923del | |
| ENST00000681319.1:n.2303_2305del | ||
| ENST00000681367.1:c.1517_1519del | ENSP00000505309.1:p.Tyr506del | |
| ENST00000681552.1:c.1150-3132_1150-3130del | ENSP00000505699.1:n.1150-3132_1150-3130del | |
| ENST00000681583.1:c.1517_1519del | ENSP00000506340.1:p.Tyr506del | |
| ENST00000681585.1:c.*136_*138del | ENSP00000506316.1:n.*136_*138del | |
| ENST00000681784.1:n.1595_1597del | ||
| ENST00000681886.1:c.*710_*712del | ENSP00000506500.1:n.*710_*712del | |
| ENST00000308982.11:c.1517_1519del | ENSP00000312618.7:p.Tyr506del | |
| ENST00000505867.5:c.*1317_*1319del | ENSP00000425346.1:n.*1317_*1319del | |
| ENST00000508971.1:c.806_808del | ENSP00000422683.1:p.Tyr269del | |
| ENST00000511227.5:c.*1411_*1413del | ENSP00000425226.1:n.*1411_*1413del | |
| ENST00000511325.1:n.498_500del | ||
| ENST00000511526.5:n.1050_1052del | ||
| NM_014049.4:c.1517_1519del | NP_054768.2:p.Tyr506del | |
| NR_033426.1:n.1895_1897del | ||
| XM_011512742.1:c.1148_1150del | XP_011511044.1:p.Tyr383del | |
| XM_024453484.1:c.1148_1150del | XP_024309252.1:p.Tyr383del | |
| XM_024453485.1:c.1148_1150del | XP_024309253.1:p.Tyr383del | |
| XR_427367.3:n.1593_1595del | ||
| NM_014049.5:c.1517_1519del MANE Select | NP_054768.2:p.Tyr506del | |
| NR_033426.2:n.1765_1767del |