Linked Data
ClinVar Variation Id:
228285
dbSNP Id:
rs876657658
ExAC:
12:80632652 CTA / C
gnomAD v2:
12-80632652-CTA-C
gnomAD v3:
12-80238872-CTA-C
gnomAD v4:
12-80238872-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80238874_80238875del , CM000674.2:g.80238874_80238875del | GRCh38 |
| NC_000012.11:g.80632654_80632655del , CM000674.1:g.80632654_80632655del | GRCh37 |
| NC_000012.10:g.79156785_79156786del | NCBI36 |
| NG_033008.1:g.34422_34423del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547103.7:c.841_842del MANE Select | ENSP00000447211.2:p.Met281ValfsTer4 | |
| ENST00000643417.1:n.1501_1502del | ||
| ENST00000646859.1:c.841_842del | ENSP00000496036.1:p.Met281ValfsTer4 | |
| ENST00000458043.6:c.814_815del | ENSP00000400895.2:p.Met272ValfsTer4 | |
| ENST00000547103.5:c.814_815del | ENSP00000447211.1:p.Met272ValfsTer4 | |
| NM_173591.3:c.814_815del | NP_775862.3:p.Met272ValfsTer4 | |
| XM_005268802.2:c.865_866del | XP_005268859.1:p.Met289ValfsTer4 | |
| XM_011538191.1:c.865_866del | XP_011536493.1:p.Met289ValfsTer4 | |
| XM_011538192.1:c.712_713del | XP_011536494.1:p.Met238ValfsTer4 | |
| XM_011538193.1:c.499_500del | XP_011536495.1:p.Met167ValfsTer4 | |
| XM_005268802.3:c.865_866del | XP_005268859.1:p.Met289ValfsTer4 | |
| XM_011538192.2:c.712_713del | XP_011536494.1:p.Met238ValfsTer4 | |
| NM_001368062.1:c.814_815del | NP_001354991.1:p.Met272ValfsTer4 | |
| NM_001368062.3:c.841_842del | NP_001354991.2:p.Met281ValfsTer4 | |
| NM_001378609.3:c.841_842del MANE Select | NP_001365538.2:p.Met281ValfsTer4 | |
| NM_001378610.3:c.841_842del | NP_001365539.2:p.Met281ValfsTer4 | |
| NM_173591.7:c.841_842del | NP_775862.4:p.Met281ValfsTer4 |