Linked Data
dbSNP Id:
rs2128998419
COSMIC:
COSM25700
MyVariant Identifiers:
chr7:g.140453166del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753366del , CM000669.2:g.140753366del | GRCh38 |
| NC_000007.13:g.140453166del , CM000669.1:g.140453166del | GRCh37 |
| NC_000007.12:g.140099635del | NCBI36 |
| NG_007873.3:g.176399del , LRG_299:g.176399del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1769del MANE Select | ENSP00000493543.1:p.Val590GlufsTer3 | |
| ENST00000288602.11:c.1889del | ENSP00000288602.7:p.Val630GlufsTer3 | |
| ENST00000479537.6:c.439del | ||
| ENST00000496384.7:c.1769del | ENSP00000419060.2:p.Val590GlufsTer3 | |
| ENST00000497784.2:c.*1219del | ENSP00000420119.2:n.*1219del | |
| ENST00000642228.1:c.*847del | ENSP00000493678.1:n.*847del | |
| ENST00000642875.1:n.1259-3948del | ||
| ENST00000644120.1:n.2159del | ||
| ENST00000644650.1:c.865del | ||
| ENST00000644905.1:n.2651del | ||
| ENST00000644969.2:c.1889del MANE Plus Clinical | ENSP00000496776.1:p.Val630GlufsTer3 | |
| ENST00000646730.1:c.*345del | ENSP00000494784.1:n.*345del | |
| ENST00000646891.1:c.1769del | ENSP00000493543.1:p.Val590GlufsTer3 | |
| ENST00000647434.1:c.738-3948del | ENSP00000495132.1:n.738-3948del | |
| ENST00000288602.10:c.1769del | ENSP00000288602.6:p.Val590GlufsTer3 | |
| ENST00000479537.5:c.53del | ENSP00000418033.1:p.Val18GlufsTer3 | |
| ENST00000496384.6:c.592del | ||
| ENST00000497784.1:c.1804del | ENSP00000420119.1:n.1804del | |
| NM_004333.4:c.1769del , LRG_299t1:c.1769del | NP_004324.2:p.Val590GlufsTer3 | |
| XM_005250045.1:c.1769del | XP_005250102.1:p.Val590GlufsTer3 | |
| XM_005250046.1:c.1769del | XP_005250103.1:p.Val590GlufsTer3 | |
| XM_011516529.1:c.1769del | XP_011514831.1:p.Val590GlufsTer3 | |
| XM_011516530.1:c.1695-3948del | XP_011514832.1:n.1695-3948del | |
| XR_242190.1:n.1777del | ||
| XR_927520.1:n.1777del | ||
| XR_927521.1:n.1777del | ||
| XR_927522.1:n.1703-3948del | ||
| XR_927523.1:n.1703-3948del | ||
| NM_001354609.1:c.1769del | NP_001341538.1:p.Val590GlufsTer3 | |
| NM_004333.5:c.1769del | NP_004324.2:p.Val590GlufsTer3 | |
| NR_148928.1:n.2867del | ||
| XM_017012558.1:c.1889del | XP_016868047.1:p.Val630GlufsTer3 | |
| XM_017012559.1:c.1889del | XP_016868048.1:p.Val630GlufsTer3 | |
| XR_001744857.1:n.1897del | ||
| XR_001744858.1:n.1823-3948del | ||
| NM_001354609.2:c.1769del | NP_001341538.1:p.Val590GlufsTer3 | |
| NM_001374244.1:c.1889del | NP_001361173.1:p.Val630GlufsTer3 | |
| NM_001374258.1:c.1889del MANE Plus Clinical | NP_001361187.1:p.Val630GlufsTer3 | |
| NM_004333.6:c.1769del MANE Select | NP_004324.2:p.Val590GlufsTer3 | |
| NM_001378467.1:c.1778del | NP_001365396.1:p.Val593GlufsTer3 | |
| NM_001378468.1:c.1769del | NP_001365397.1:p.Val590GlufsTer3 | |
| NM_001378469.1:c.1703del | NP_001365398.1:p.Val568GlufsTer3 | |
| NM_001378470.1:c.1667del | NP_001365399.1:p.Val556GlufsTer3 | |
| NM_001378471.1:c.1658del | NP_001365400.1:p.Val553GlufsTer3 | |
| NM_001378472.1:c.1613del | NP_001365401.1:p.Val538GlufsTer3 | |
| NM_001378473.1:c.1613del | NP_001365402.1:p.Val538GlufsTer3 | |
| NM_001378474.1:c.1769del | NP_001365403.1:p.Val590GlufsTer3 | |
| NM_001378475.1:c.1505del | NP_001365404.1:p.Val502GlufsTer3 |