Linked Data
dbSNP Id:
rs762725807
ExAC:
2:203420221 CACA / C
gnomAD v2:
2-203420221-CACA-C
gnomAD v4:
2-202555498-CACA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202555504_202555506del , CM000664.2:g.202555504_202555506del | GRCh38 |
| NC_000002.11:g.203420227_203420229del , CM000664.1:g.203420227_203420229del | GRCh37 |
| NC_000002.10:g.203128472_203128474del | NCBI36 |
| NG_009363.1:g.184178_184180del , LRG_712:g.184178_184180del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1839_1841del MANE Select | ENSP00000363708.4:p.Thr614del | |
| ENST00000638587.1:c.1770_1772del | ENSP00000491062.1:n.1770_1772del | |
| ENST00000374574.2:c.1586+2616_1586+2618del | ENSP00000363702.2:n.1586+2616_1586+2618del | |
| ENST00000374580.8:c.1839_1841del | ENSP00000363708.4:p.Thr614del | |
| NM_001204.6:c.1839_1841del , LRG_712t1:c.1839_1841del | NP_001195.2:p.Thr614del | |
| XM_011511687.1:c.1839_1841del | XP_011509989.1:p.Thr614del | |
| XM_011511688.1:c.1586+2616_1586+2618del | XP_011509990.1:n.1586+2616_1586+2618del | |
| NM_001204.7:c.1839_1841del MANE Select | NP_001195.2:p.Thr614del |