Linked Data
ClinVar Variation Id:
279782
dbSNP Id:
rs886041185
gnomAD v2:
8-100847523-T-TA
gnomAD v4:
8-99835295-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99835300dup , CM000670.2:g.99835300dup | GRCh38 |
| NC_000008.10:g.100847528dup , CM000670.1:g.100847528dup | GRCh37 |
| NC_000008.9:g.100916704dup | NCBI36 |
| NG_007098.2:g.827035dup , LRG_351:g.827035dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.9793dup | ENSP00000507923.1:p.Met3265AsnfsTer8 | |
| ENST00000682358.1:n.9863dup | ||
| ENST00000683334.1:c.*5475dup | ENSP00000507369.1:n.*5475dup | |
| ENST00000357162.7:c.9718dup MANE Select | ENSP00000349685.2:p.Met3240AsnfsTer8 | |
| ENST00000358544.7:c.9793dup MANE Plus Clinical | ENSP00000351346.2:p.Met3265AsnfsTer8 | |
| ENST00000357162.6:c.9718dup | ENSP00000349685.2:p.Met3240AsnfsTer8 | |
| ENST00000358544.6:c.9793dup | ENSP00000351346.2:p.Met3265AsnfsTer8 | |
| NM_017890.4:c.9793dup , LRG_351t1:c.9793dup | NP_060360.3:p.Met3265AsnfsTer8 | |
| NM_152564.4:c.9718dup , LRG_351t2:c.9718dup | NP_689777.3:p.Met3240AsnfsTer8 | |
| XM_005250800.2:c.9793dup | XP_005250857.1:p.Met3265AsnfsTer8 | |
| XM_005250801.3:c.9793dup | XP_005250858.1:p.Met3265AsnfsTer8 | |
| XM_011516848.1:c.9790dup | XP_011515150.1:p.Met3264AsnfsTer8 | |
| XM_011516849.1:c.9715dup | XP_011515151.1:p.Met3239AsnfsTer8 | |
| XM_011516850.1:c.9415dup | XP_011515152.1:p.Met3139AsnfsTer8 | |
| XM_011516851.1:c.6679dup | XP_011515153.1:p.Met2227AsnfsTer8 | |
| XM_011516852.1:c.6679dup | XP_011515154.1:p.Met2227AsnfsTer8 | |
| XM_011516854.1:c.5572dup | XP_011515156.1:p.Met1858AsnfsTer8 | |
| XM_005250800.3:c.9793dup | XP_005250857.1:p.Met3265AsnfsTer8 | |
| XM_005250801.5:c.9793dup | XP_005250858.1:p.Met3265AsnfsTer8 | |
| XM_011516848.2:c.9790dup | XP_011515150.1:p.Met3264AsnfsTer8 | |
| XM_011516849.2:c.9715dup | XP_011515151.1:p.Met3239AsnfsTer8 | |
| XM_011516850.2:c.9415dup | XP_011515152.1:p.Met3139AsnfsTer8 | |
| XM_011516851.2:c.6679dup | XP_011515153.1:p.Met2227AsnfsTer8 | |
| XM_011516852.2:c.6679dup | XP_011515154.1:p.Met2227AsnfsTer8 | |
| XM_011516854.2:c.5572dup | XP_011515156.1:p.Met1858AsnfsTer8 | |
| XM_017013109.1:c.9598dup | XP_016868598.1:p.Met3200AsnfsTer8 | |
| XM_017013111.1:c.6679dup | XP_016868600.1:p.Met2227AsnfsTer8 | |
| XM_017013112.1:c.5350dup | XP_016868601.1:p.Met1784AsnfsTer8 | |
| XM_024447074.1:c.8578dup | XP_024302842.1:p.Met2860AsnfsTer8 | |
| NM_017890.5:c.9793dup MANE Plus Clinical | NP_060360.3:p.Met3265AsnfsTer8 | |
| NM_152564.5:c.9718dup MANE Select | NP_689777.3:p.Met3240AsnfsTer8 |