ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
MyVariant.info:
GRCh38
chr8:g.99821308del
GRCh38
chr8:g.99821307del
GRCh37
chr8:g.100833536del
GRCh37
chr8:g.100833535del
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99821308del , CM000670.2:g.99821308del | GRCh38 |
| NC_000008.10:g.100833536del , CM000670.1:g.100833536del | GRCh37 |
| NC_000008.9:g.100902712del | NCBI36 |
| NG_007098.2:g.813043del , LRG_351:g.813043del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.9084del | ENSP00000507923.1:p.Ile3028MetfsTer15 | |
| ENST00000682358.1:n.9154del | ||
| ENST00000683334.1:c.*4766del | ENSP00000507369.1:n.*4766del | |
| ENST00000357162.7:c.9009del MANE Select | ENSP00000349685.2:p.Ile3003MetfsTer15 | |
| ENST00000358544.7:c.9084del MANE Plus Clinical | ENSP00000351346.2:p.Ile3028MetfsTer15 | |
| ENST00000357162.6:c.9009del | ENSP00000349685.2:p.Ile3003MetfsTer15 | |
| ENST00000358544.6:c.9084del | ENSP00000351346.2:p.Ile3028MetfsTer15 | |
| NM_017890.4:c.9084del , LRG_351t1:c.9084del | NP_060360.3:p.Ile3028MetfsTer15 | |
| NM_152564.4:c.9009del , LRG_351t2:c.9009del | NP_689777.3:p.Ile3003MetfsTer15 | |
| XM_005250800.2:c.9084del | XP_005250857.1:p.Ile3028MetfsTer15 | |
| XM_005250801.3:c.9084del | XP_005250858.1:p.Ile3028MetfsTer15 | |
| XM_011516848.1:c.9081del | XP_011515150.1:p.Ile3027MetfsTer15 | |
| XM_011516849.1:c.9006del | XP_011515151.1:p.Ile3002MetfsTer15 | |
| XM_011516850.1:c.8706del | XP_011515152.1:p.Ile2902MetfsTer15 | |
| XM_011516851.1:c.5970del | XP_011515153.1:p.Ile1990MetfsTer15 | |
| XM_011516852.1:c.5970del | XP_011515154.1:p.Ile1990MetfsTer15 | |
| XM_011516854.1:c.4863del | XP_011515156.1:p.Ile1621MetfsTer15 | |
| XM_005250800.3:c.9084del | XP_005250857.1:p.Ile3028MetfsTer15 | |
| XM_005250801.5:c.9084del | XP_005250858.1:p.Ile3028MetfsTer15 | |
| XM_011516848.2:c.9081del | XP_011515150.1:p.Ile3027MetfsTer15 | |
| XM_011516849.2:c.9006del | XP_011515151.1:p.Ile3002MetfsTer15 | |
| XM_011516850.2:c.8706del | XP_011515152.1:p.Ile2902MetfsTer15 | |
| XM_011516851.2:c.5970del | XP_011515153.1:p.Ile1990MetfsTer15 | |
| XM_011516852.2:c.5970del | XP_011515154.1:p.Ile1990MetfsTer15 | |
| XM_011516854.2:c.4863del | XP_011515156.1:p.Ile1621MetfsTer15 | |
| XM_017013109.1:c.8889del | XP_016868598.1:p.Ile2963MetfsTer15 | |
| XM_017013111.1:c.5970del | XP_016868600.1:p.Ile1990MetfsTer15 | |
| XM_017013112.1:c.4641del | XP_016868601.1:p.Ile1547MetfsTer15 | |
| XM_024447074.1:c.7869del | XP_024302842.1:p.Ile2623MetfsTer15 | |
| NM_017890.5:c.9084del MANE Plus Clinical | NP_060360.3:p.Ile3028MetfsTer15 | |
| NM_152564.5:c.9009del MANE Select | NP_689777.3:p.Ile3003MetfsTer15 |