Linked Data
ClinVar Variation Id:
92954
dbSNP Id:
rs398123372
ExAC:
6:129636693 AT / A
gnomAD v2:
6-129636693-AT-A
gnomAD v3:
6-129315548-AT-A
gnomAD v4:
6-129315548-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129315550del , CM000668.2:g.129315550del | GRCh38 |
| NC_000006.11:g.129636695del , CM000668.1:g.129636695del | GRCh37 |
| NC_000006.10:g.129678388del | NCBI36 |
| NG_008678.1:g.437410del , LRG_409:g.437410del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.3630del | ENSP00000481744.2:p.Ile1210MetfsTer14 | |
| ENST00000618192.5:c.3894del | ENSP00000480802.2:p.Ile1298MetfsTer14 | |
| ENST00000421865.3:c.3630del MANE Select | ENSP00000400365.2:p.Ile1210MetfsTer14 | |
| ENST00000421865.2:c.3630del | ENSP00000400365.2:p.Ile1210MetfsTer14 | |
| ENST00000617695.4:c.3630del | ENSP00000481744.1:p.Ile1210MetfsTer14 | |
| ENST00000618192.4:c.3630del | ENSP00000480802.1:p.Ile1210MetfsTer14 | |
| NM_000426.3:c.3630del , LRG_409t1:c.3630del | NP_000417.2:p.Ile1210MetfsTer14 | |
| NM_001079823.1:c.3630del | NP_001073291.1:p.Ile1210MetfsTer14 | |
| XM_005266981.2:c.3894del | XP_005267038.1:p.Ile1298MetfsTer14 | |
| XM_005266982.2:c.3894del | XP_005267039.1:p.Ile1298MetfsTer14 | |
| XM_011535820.1:c.3894del | XP_011534122.1:p.Ile1298MetfsTer14 | |
| XM_005266981.3:c.3894del | XP_005267038.1:p.Ile1298MetfsTer14 | |
| XM_005266982.3:c.3894del | XP_005267039.1:p.Ile1298MetfsTer14 | |
| XM_011535820.2:c.3894del | XP_011534122.1:p.Ile1298MetfsTer14 | |
| XM_017010851.2:c.3900del | XP_016866340.1:p.Ile1300MetfsTer14 | |
| XM_017010852.1:c.2025del | XP_016866341.1:p.Ile675MetfsTer14 | |
| XM_017010853.1:c.3894del | XP_016866342.1:p.Ile1298MetfsTer14 | |
| NM_000426.4:c.3630del MANE Select | NP_000417.3:p.Ile1210MetfsTer14 | |
| NM_001079823.2:c.3630del | NP_001073291.2:p.Ile1210MetfsTer14 |