Linked Data
dbSNP Id:
rs1317080066
gnomAD v3:
5-137628226-T-TTTGCTG
gnomAD v4:
5-137628226-T-TTTGCTG
MyVariant Identifiers:
chr5:g.136963915_136963916insTTGCTG (hg19)
chr5:g.137628226_137628227insTTGCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137628228_137628229insGCTGTT , CM000667.2:g.137628228_137628229insGCTGTT | GRCh38 |
| NC_000005.9:g.136963917_136963918insGCTGTT , CM000667.1:g.136963917_136963918insGCTGTT | GRCh37 |
| NC_000005.8:g.136991816_136991817insGCTGTT | NCBI36 |
| NG_032569.1:g.112864_112865insCAGCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1591+70_1591+71insCAGCAA MANE Select | ENSP00000312397.4:n.1591+70_1591+71insCAGCAA | |
| ENST00000309755.8:c.1591+70_1591+71insCAGCAA | ENSP00000312397.4:n.1591+70_1591+71insCAGCAA | |
| ENST00000447439.6:n.1647+70_1647+71insCAGCAA | ||
| ENST00000504208.5:c.*475+70_*475+71insCAGCAA | ENSP00000423585.1:n.*475+70_*475+71insCAGCAA | |
| ENST00000506491.5:c.1345+70_1345+71insCAGCAA | ENSP00000424828.1:n.1345+70_1345+71insCAGCAA | |
| ENST00000506873.5:n.1114+70_1114+71insCAGCAA | ||
| ENST00000508657.5:c.1495+70_1495+71insCAGCAA | ENSP00000422099.1:n.1495+70_1495+71insCAGCAA | |
| ENST00000509694.1:n.454_455insCAGCAA | ||
| NM_001257194.1:c.1495+70_1495+71insCAGCAA | NP_001244123.1:n.1495+70_1495+71insCAGCAA | |
| NM_001257195.1:c.1345+70_1345+71insCAGCAA | NP_001244124.1:n.1345+70_1345+71insCAGCAA | |
| NM_017415.2:c.1591+70_1591+71insCAGCAA | NP_059111.2:n.1591+70_1591+71insCAGCAA | |
| NM_017415.3:c.1591+70_1591+71insCAGCAA MANE Select | NP_059111.2:n.1591+70_1591+71insCAGCAA | |
| NM_001257195.2:c.1345+70_1345+71insCAGCAA | NP_001244124.1:n.1345+70_1345+71insCAGCAA |