Linked Data
ClinVar Variation Id:
156477
dbSNP Id:
rs587783031
MyVariant Identifiers:
chr5:g.112175957del (hg19)
chr5:g.112175952del (hg19)
chr5:g.112840260del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840260del , CM000667.2:g.112840260del | GRCh38 |
| NC_000005.9:g.112175957del , CM000667.1:g.112175957del | GRCh37 |
| NC_000005.8:g.112203856del | NCBI36 |
| NG_008481.4:g.152740del , LRG_130:g.152740del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4720del | ENSP00000473355.2:p.Thr1574LeufsTer9 | |
| ENST00000505350.2:c.*4672del | ENSP00000481752.1:n.*4672del | |
| ENST00000507379.6:c.4612del | ENSP00000423224.2:p.Thr1538LeufsTer9 | |
| ENST00000509732.6:c.4666del | ENSP00000426541.2:p.Thr1556LeufsTer9 | |
| ENST00000512211.7:c.4666del | ENSP00000423828.3:p.Thr1556LeufsTer9 | |
| ENST00000257430.9:c.4666del MANE Select | ENSP00000257430.4:p.Thr1556LeufsTer9 | |
| ENST00000257430.8:c.4666del | ENSP00000257430.4:p.Thr1556LeufsTer9 | |
| ENST00000508376.6:c.4666del | ENSP00000427089.2:p.Thr1556LeufsTer9 | |
| ENST00000508624.5:c.*3988del | ENSP00000424265.1:n.*3988del | |
| ENST00000520401.1:c.230+11288del | ||
| NM_000038.5:c.4666del | NP_000029.2:p.Thr1556LeufsTer9 | |
| NM_001127510.2:c.4666del | NP_001120982.1:p.Thr1556LeufsTer9 | |
| NM_001127511.2:c.4612del | NP_001120983.2:p.Thr1538LeufsTer9 | |
| NM_001354895.1:c.4666del | NP_001341824.1:p.Thr1556LeufsTer9 | |
| NM_001354896.1:c.4720del | NP_001341825.1:p.Thr1574LeufsTer9 | |
| NM_001354897.1:c.4696del | NP_001341826.1:p.Thr1566LeufsTer9 | |
| NM_001354898.1:c.4591del | NP_001341827.1:p.Thr1531LeufsTer9 | |
| NM_001354899.1:c.4582del | NP_001341828.1:p.Thr1528LeufsTer9 | |
| NM_001354900.1:c.4543del | NP_001341829.1:p.Thr1515LeufsTer9 | |
| NM_001354901.1:c.4489del | NP_001341830.1:p.Thr1497LeufsTer9 | |
| NM_001354902.1:c.4393del | NP_001341831.1:p.Thr1465LeufsTer9 | |
| NM_001354903.1:c.4363del | NP_001341832.1:p.Thr1455LeufsTer9 | |
| NM_001354904.1:c.4288del | NP_001341833.1:p.Thr1430LeufsTer9 | |
| NM_001354905.1:c.4186del | NP_001341834.1:p.Thr1396LeufsTer9 | |
| NM_001354906.1:c.3817del | NP_001341835.1:p.Thr1273LeufsTer9 | |
| NM_000038.6:c.4666del MANE Select | NP_000029.2:p.Thr1556LeufsTer9 | |
| NM_001127510.3:c.4666del | NP_001120982.1:p.Thr1556LeufsTer9 | |
| NM_001127511.3:c.4612del | NP_001120983.2:p.Thr1538LeufsTer9 | |
| NM_001354895.2:c.4666del | NP_001341824.1:p.Thr1556LeufsTer9 | |
| NM_001354896.2:c.4720del | NP_001341825.1:p.Thr1574LeufsTer9 | |
| NM_001354897.2:c.4696del | NP_001341826.1:p.Thr1566LeufsTer9 | |
| NM_001354898.2:c.4591del | NP_001341827.1:p.Thr1531LeufsTer9 | |
| NM_001354899.2:c.4582del | NP_001341828.1:p.Thr1528LeufsTer9 | |
| NM_001354900.2:c.4543del | NP_001341829.1:p.Thr1515LeufsTer9 | |
| NM_001354901.2:c.4489del | NP_001341830.1:p.Thr1497LeufsTer9 | |
| NM_001354902.2:c.4393del | NP_001341831.1:p.Thr1465LeufsTer9 | |
| NM_001354903.2:c.4363del | NP_001341832.1:p.Thr1455LeufsTer9 | |
| NM_001354904.2:c.4288del | NP_001341833.1:p.Thr1430LeufsTer9 | |
| NM_001354905.2:c.4186del | NP_001341834.1:p.Thr1396LeufsTer9 | |
| NM_001354906.2:c.3817del | NP_001341835.1:p.Thr1273LeufsTer9 |