Linked Data
ClinVar Variation Id:
92344
dbSNP Id:
rs398123120
MyVariant Identifiers:
chr5:g.112174096del (hg19)
chr5:g.112174096delC (hg19)
chr5:g.112838399del (hg38)
PubMed:
PMID:20685668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838399del , CM000667.2:g.112838399del | GRCh38 |
| NC_000005.9:g.112174096del , CM000667.1:g.112174096del | GRCh37 |
| NC_000005.8:g.112201995del | NCBI36 |
| NG_008481.4:g.150879del , LRG_130:g.150879del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2470del | ENSP00000484935.2:n.2470del | |
| ENST00000504915.3:c.2859del | ENSP00000473355.2:p.Tyr953Ter | |
| ENST00000505350.2:c.*2811del | ENSP00000481752.1:n.*2811del | |
| ENST00000507379.6:c.2751del | ENSP00000423224.2:p.Tyr917Ter | |
| ENST00000509732.6:c.2805del | ENSP00000426541.2:p.Tyr935Ter | |
| ENST00000512211.7:c.2805del | ENSP00000423828.3:p.Tyr935Ter | |
| ENST00000257430.9:c.2805del MANE Select | ENSP00000257430.4:p.Tyr935Ter | |
| ENST00000257430.8:c.2805del | ENSP00000257430.4:p.Tyr935Ter | |
| ENST00000502371.2:c.1158del | ||
| ENST00000507379.5:c.2751del | ENSP00000423224.1:p.Tyr917Ter | |
| ENST00000508376.6:c.2805del | ENSP00000427089.2:p.Tyr935Ter | |
| ENST00000508624.5:c.*2127del | ENSP00000424265.1:n.*2127del | |
| ENST00000512211.6:c.2805del | ENSP00000423828.2:p.Tyr935Ter | |
| ENST00000520401.1:c.230+9427del | ||
| NM_000038.5:c.2805del | NP_000029.2:p.Tyr935Ter | |
| NM_001127510.2:c.2805del | NP_001120982.1:p.Tyr935Ter | |
| NM_001127511.2:c.2751del | NP_001120983.2:p.Tyr917Ter | |
| NM_001354895.1:c.2805del | NP_001341824.1:p.Tyr935Ter | |
| NM_001354896.1:c.2859del | NP_001341825.1:p.Tyr953Ter | |
| NM_001354897.1:c.2835del | NP_001341826.1:p.Tyr945Ter | |
| NM_001354898.1:c.2730del | NP_001341827.1:p.Tyr910Ter | |
| NM_001354899.1:c.2721del | NP_001341828.1:p.Tyr907Ter | |
| NM_001354900.1:c.2682del | NP_001341829.1:p.Tyr894Ter | |
| NM_001354901.1:c.2628del | NP_001341830.1:p.Tyr876Ter | |
| NM_001354902.1:c.2532del | NP_001341831.1:p.Tyr844Ter | |
| NM_001354903.1:c.2502del | NP_001341832.1:p.Tyr834Ter | |
| NM_001354904.1:c.2427del | NP_001341833.1:p.Tyr809Ter | |
| NM_001354905.1:c.2325del | NP_001341834.1:p.Tyr775Ter | |
| NM_001354906.1:c.1956del | NP_001341835.1:p.Tyr652Ter | |
| NM_000038.6:c.2805del MANE Select | NP_000029.2:p.Tyr935Ter | |
| NM_001127510.3:c.2805del | NP_001120982.1:p.Tyr935Ter | |
| NM_001127511.3:c.2751del | NP_001120983.2:p.Tyr917Ter | |
| NM_001354895.2:c.2805del | NP_001341824.1:p.Tyr935Ter | |
| NM_001354896.2:c.2859del | NP_001341825.1:p.Tyr953Ter | |
| NM_001354897.2:c.2835del | NP_001341826.1:p.Tyr945Ter | |
| NM_001354898.2:c.2730del | NP_001341827.1:p.Tyr910Ter | |
| NM_001354899.2:c.2721del | NP_001341828.1:p.Tyr907Ter | |
| NM_001354900.2:c.2682del | NP_001341829.1:p.Tyr894Ter | |
| NM_001354901.2:c.2628del | NP_001341830.1:p.Tyr876Ter | |
| NM_001354902.2:c.2532del | NP_001341831.1:p.Tyr844Ter | |
| NM_001354903.2:c.2502del | NP_001341832.1:p.Tyr834Ter | |
| NM_001354904.2:c.2427del | NP_001341833.1:p.Tyr809Ter | |
| NM_001354905.2:c.2325del | NP_001341834.1:p.Tyr775Ter | |
| NM_001354906.2:c.1956del | NP_001341835.1:p.Tyr652Ter |