Linked Data
ClinVar Variation Id:
428121
ClinVar RCV Id:
RCV000491093
dbSNP Id:
rs1114167567
PubMed:
PMID:20223039
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112815551_112815554del , CM000667.2:g.112815551_112815554del | GRCh38 |
| NC_000005.9:g.112151248_112151251del , CM000667.1:g.112151248_112151251del | GRCh37 |
| NC_000005.8:g.112179147_112179150del | NCBI36 |
| NG_008481.4:g.128031_128034del , LRG_130:g.128031_128034del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.891_894del | ENSP00000484935.2:p.His298LeufsTer6 | |
| ENST00000504915.3:c.891_894del | ENSP00000473355.2:p.His298LeufsTer6 | |
| ENST00000505084.2:n.947_950del | ||
| ENST00000505350.2:c.*897_*900del | ENSP00000481752.1:n.*897_*900del | |
| ENST00000507379.6:c.837_840del | ENSP00000423224.2:p.His280LeufsTer6 | |
| ENST00000509732.6:c.891_894del | ENSP00000426541.2:p.His298LeufsTer6 | |
| ENST00000512211.7:c.891_894del | ENSP00000423828.3:p.His298LeufsTer6 | |
| ENST00000257430.9:c.891_894del MANE Select | ENSP00000257430.4:p.His298LeufsTer6 | |
| ENST00000257430.8:c.891_894del | ENSP00000257430.4:p.His298LeufsTer6 | |
| ENST00000507379.5:c.837_840del | ENSP00000423224.1:p.His280LeufsTer6 | |
| ENST00000508376.6:c.891_894del | ENSP00000427089.2:p.His298LeufsTer6 | |
| ENST00000508624.5:c.*213_*216del | ENSP00000424265.1:n.*213_*216del | |
| ENST00000512211.6:c.891_894del | ENSP00000423828.2:p.His298LeufsTer6 | |
| NM_000038.5:c.891_894del | NP_000029.2:p.His298LeufsTer6 | |
| NM_001127510.2:c.891_894del | NP_001120982.1:p.His298LeufsTer6 | |
| NM_001127511.2:c.837_840del | NP_001120983.2:p.His280LeufsTer6 | |
| NM_001354895.1:c.891_894del | NP_001341824.1:p.His298LeufsTer6 | |
| NM_001354896.1:c.891_894del | NP_001341825.1:p.His298LeufsTer6 | |
| NM_001354897.1:c.921_924del | NP_001341826.1:p.His308LeufsTer6 | |
| NM_001354898.1:c.816_819del | NP_001341827.1:p.His273LeufsTer6 | |
| NM_001354899.1:c.807_810del | NP_001341828.1:p.His270LeufsTer6 | |
| NM_001354900.1:c.714_717del | NP_001341829.1:p.His239LeufsTer6 | |
| NM_001354901.1:c.714_717del | NP_001341830.1:p.His239LeufsTer6 | |
| NM_001354902.1:c.921_924del | NP_001341831.1:p.His308LeufsTer6 | |
| NM_001354903.1:c.891_894del | NP_001341832.1:p.His298LeufsTer6 | |
| NM_001354904.1:c.816_819del | NP_001341833.1:p.His273LeufsTer6 | |
| NM_001354905.1:c.714_717del | NP_001341834.1:p.His239LeufsTer6 | |
| NM_001354906.1:c.42_45del | NP_001341835.1:p.His15LeufsTer6 | |
| NM_000038.6:c.891_894del MANE Select | NP_000029.2:p.His298LeufsTer6 | |
| NM_001127510.3:c.891_894del | NP_001120982.1:p.His298LeufsTer6 | |
| NM_001127511.3:c.837_840del | NP_001120983.2:p.His280LeufsTer6 | |
| NM_001354895.2:c.891_894del | NP_001341824.1:p.His298LeufsTer6 | |
| NM_001354896.2:c.891_894del | NP_001341825.1:p.His298LeufsTer6 | |
| NM_001354897.2:c.921_924del | NP_001341826.1:p.His308LeufsTer6 | |
| NM_001354898.2:c.816_819del | NP_001341827.1:p.His273LeufsTer6 | |
| NM_001354899.2:c.807_810del | NP_001341828.1:p.His270LeufsTer6 | |
| NM_001354900.2:c.714_717del | NP_001341829.1:p.His239LeufsTer6 | |
| NM_001354901.2:c.714_717del | NP_001341830.1:p.His239LeufsTer6 | |
| NM_001354902.2:c.921_924del | NP_001341831.1:p.His308LeufsTer6 | |
| NM_001354903.2:c.891_894del | NP_001341832.1:p.His298LeufsTer6 | |
| NM_001354904.2:c.816_819del | NP_001341833.1:p.His273LeufsTer6 | |
| NM_001354905.2:c.714_717del | NP_001341834.1:p.His239LeufsTer6 | |
| NM_001354906.2:c.42_45del | NP_001341835.1:p.His15LeufsTer6 |