Linked Data
ClinVar Variation Id:
2583274
ClinVar RCV Id:
RCV003337441
MyVariant Identifiers:
chr5:g.112175883del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840186del , CM000667.2:g.112840186del | GRCh38 |
| NC_000005.9:g.112175883del , CM000667.1:g.112175883del | GRCh37 |
| NC_000005.8:g.112203782del | NCBI36 |
| NG_008481.4:g.152666del , LRG_130:g.152666del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4646del | ENSP00000473355.2:p.Asn1549MetfsTer? | |
| ENST00000505350.2:c.*4598del | ENSP00000481752.1:n.*4598del | |
| ENST00000507379.6:c.4538del | ENSP00000423224.2:p.Asn1513MetfsTer? | |
| ENST00000509732.6:c.4592del | ENSP00000426541.2:p.Asn1531MetfsTer? | |
| ENST00000512211.7:c.4592del | ENSP00000423828.3:p.Asn1531MetfsTer? | |
| ENST00000257430.9:c.4592del MANE Select | ENSP00000257430.4:p.Asn1531MetfsTer? | |
| ENST00000257430.8:c.4592del | ENSP00000257430.4:p.Asn1531MetfsTer? | |
| ENST00000508376.6:c.4592del | ENSP00000427089.2:p.Asn1531MetfsTer? | |
| ENST00000508624.5:c.*3914del | ENSP00000424265.1:n.*3914del | |
| ENST00000520401.1:c.230+11214del | ||
| NM_000038.5:c.4592del | NP_000029.2:p.Asn1531MetfsTer? | |
| NM_001127510.2:c.4592del | NP_001120982.1:p.Asn1531MetfsTer? | |
| NM_001127511.2:c.4538del | NP_001120983.2:p.Asn1513MetfsTer? | |
| NM_001354895.1:c.4592del | NP_001341824.1:p.Asn1531MetfsTer? | |
| NM_001354896.1:c.4646del | NP_001341825.1:p.Asn1549MetfsTer? | |
| NM_001354897.1:c.4622del | NP_001341826.1:p.Asn1541MetfsTer? | |
| NM_001354898.1:c.4517del | NP_001341827.1:p.Asn1506MetfsTer? | |
| NM_001354899.1:c.4508del | NP_001341828.1:p.Asn1503MetfsTer? | |
| NM_001354900.1:c.4469del | NP_001341829.1:p.Asn1490MetfsTer? | |
| NM_001354901.1:c.4415del | NP_001341830.1:p.Asn1472MetfsTer? | |
| NM_001354902.1:c.4319del | NP_001341831.1:p.Asn1440MetfsTer? | |
| NM_001354903.1:c.4289del | NP_001341832.1:p.Asn1430MetfsTer? | |
| NM_001354904.1:c.4214del | NP_001341833.1:p.Asn1405MetfsTer? | |
| NM_001354905.1:c.4112del | NP_001341834.1:p.Asn1371MetfsTer? | |
| NM_001354906.1:c.3743del | NP_001341835.1:p.Asn1248MetfsTer? | |
| NM_000038.6:c.4592del MANE Select | NP_000029.2:p.Asn1531MetfsTer? | |
| NM_001127510.3:c.4592del | NP_001120982.1:p.Asn1531MetfsTer? | |
| NM_001127511.3:c.4538del | NP_001120983.2:p.Asn1513MetfsTer? | |
| NM_001354895.2:c.4592del | NP_001341824.1:p.Asn1531MetfsTer? | |
| NM_001354896.2:c.4646del | NP_001341825.1:p.Asn1549MetfsTer? | |
| NM_001354897.2:c.4622del | NP_001341826.1:p.Asn1541MetfsTer? | |
| NM_001354898.2:c.4517del | NP_001341827.1:p.Asn1506MetfsTer? | |
| NM_001354899.2:c.4508del | NP_001341828.1:p.Asn1503MetfsTer? | |
| NM_001354900.2:c.4469del | NP_001341829.1:p.Asn1490MetfsTer? | |
| NM_001354901.2:c.4415del | NP_001341830.1:p.Asn1472MetfsTer? | |
| NM_001354902.2:c.4319del | NP_001341831.1:p.Asn1440MetfsTer? | |
| NM_001354903.2:c.4289del | NP_001341832.1:p.Asn1430MetfsTer? | |
| NM_001354904.2:c.4214del | NP_001341833.1:p.Asn1405MetfsTer? | |
| NM_001354905.2:c.4112del | NP_001341834.1:p.Asn1371MetfsTer? | |
| NM_001354906.2:c.3743del | NP_001341835.1:p.Asn1248MetfsTer? |