Linked Data
ClinVar Variation Id:
127309
dbSNP Id:
rs587779801
MyVariant Identifiers:
chr5:g.112177170_112177171delinsTA (hg19)
chr5:g.112841473_112841474delinsTA (hg38)
PubMed:
PMID:14616385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841473_112841474delinsTA , CM000667.2:g.112841473_112841474delinsTA | GRCh38 |
| NC_000005.9:g.112177170_112177171delinsTA , CM000667.1:g.112177170_112177171delinsTA | GRCh37 |
| NC_000005.8:g.112205069_112205070delinsTA | NCBI36 |
| NG_008481.4:g.153953_153954delinsTA , LRG_130:g.153953_153954delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5933_5934delinsTA | ENSP00000473355.2:p.Pro1978Leu | |
| ENST00000505350.2:c.*5885_*5886delinsTA | ENSP00000481752.1:n.*5885_*5886delinsTA | |
| ENST00000507379.6:c.5825_5826delinsTA | ENSP00000423224.2:p.Pro1942Leu | |
| ENST00000509732.6:c.5879_5880delinsTA | ENSP00000426541.2:p.Pro1960Leu | |
| ENST00000512211.7:c.5879_5880delinsTA | ENSP00000423828.3:p.Pro1960Leu | |
| ENST00000257430.9:c.5879_5880delinsTA MANE Select | ENSP00000257430.4:p.Pro1960Leu | |
| ENST00000257430.8:c.5879_5880delinsTA | ENSP00000257430.4:p.Pro1960Leu | |
| ENST00000508376.6:c.5879_5880delinsTA | ENSP00000427089.2:p.Pro1960Leu | |
| ENST00000508624.5:c.*5201_*5202delinsTA | ENSP00000424265.1:n.*5201_*5202delinsTA | |
| ENST00000520401.1:c.230+12501_230+12502delinsTA | ||
| NM_000038.5:c.5879_5880delinsTA | NP_000029.2:p.Pro1960Leu | |
| NM_001127510.2:c.5879_5880delinsTA | NP_001120982.1:p.Pro1960Leu | |
| NM_001127511.2:c.5825_5826delinsTA | NP_001120983.2:p.Pro1942Leu | |
| NM_001354895.1:c.5879_5880delinsTA | NP_001341824.1:p.Pro1960Leu | |
| NM_001354896.1:c.5933_5934delinsTA | NP_001341825.1:p.Pro1978Leu | |
| NM_001354897.1:c.5909_5910delinsTA | NP_001341826.1:p.Pro1970Leu | |
| NM_001354898.1:c.5804_5805delinsTA | NP_001341827.1:p.Pro1935Leu | |
| NM_001354899.1:c.5795_5796delinsTA | NP_001341828.1:p.Pro1932Leu | |
| NM_001354900.1:c.5756_5757delinsTA | NP_001341829.1:p.Pro1919Leu | |
| NM_001354901.1:c.5702_5703delinsTA | NP_001341830.1:p.Pro1901Leu | |
| NM_001354902.1:c.5606_5607delinsTA | NP_001341831.1:p.Pro1869Leu | |
| NM_001354903.1:c.5576_5577delinsTA | NP_001341832.1:p.Pro1859Leu | |
| NM_001354904.1:c.5501_5502delinsTA | NP_001341833.1:p.Pro1834Leu | |
| NM_001354905.1:c.5399_5400delinsTA | NP_001341834.1:p.Pro1800Leu | |
| NM_001354906.1:c.5030_5031delinsTA | NP_001341835.1:p.Pro1677Leu | |
| NM_000038.6:c.5879_5880delinsTA MANE Select | NP_000029.2:p.Pro1960Leu | |
| NM_001127510.3:c.5879_5880delinsTA | NP_001120982.1:p.Pro1960Leu | |
| NM_001127511.3:c.5825_5826delinsTA | NP_001120983.2:p.Pro1942Leu | |
| NM_001354895.2:c.5879_5880delinsTA | NP_001341824.1:p.Pro1960Leu | |
| NM_001354896.2:c.5933_5934delinsTA | NP_001341825.1:p.Pro1978Leu | |
| NM_001354897.2:c.5909_5910delinsTA | NP_001341826.1:p.Pro1970Leu | |
| NM_001354898.2:c.5804_5805delinsTA | NP_001341827.1:p.Pro1935Leu | |
| NM_001354899.2:c.5795_5796delinsTA | NP_001341828.1:p.Pro1932Leu | |
| NM_001354900.2:c.5756_5757delinsTA | NP_001341829.1:p.Pro1919Leu | |
| NM_001354901.2:c.5702_5703delinsTA | NP_001341830.1:p.Pro1901Leu | |
| NM_001354902.2:c.5606_5607delinsTA | NP_001341831.1:p.Pro1869Leu | |
| NM_001354903.2:c.5576_5577delinsTA | NP_001341832.1:p.Pro1859Leu | |
| NM_001354904.2:c.5501_5502delinsTA | NP_001341833.1:p.Pro1834Leu | |
| NM_001354905.2:c.5399_5400delinsTA | NP_001341834.1:p.Pro1800Leu | |
| NM_001354906.2:c.5030_5031delinsTA | NP_001341835.1:p.Pro1677Leu |