Linked Data
dbSNP Id:
rs1800195249
gnomAD v3:
6-31657233-GGCTCTGT-G
gnomAD v4:
6-31657233-GGCTCTGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31657235_31657241del , CM000668.2:g.31657235_31657241del | GRCh38 |
| NC_000006.11:g.31625012_31625018del , CM000668.1:g.31625012_31625018del | GRCh37 |
| NC_000006.10:g.31732991_31732997del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375916.4:c.280_286del (APOM) MANE Select | ENSP00000365081.3:p.Leu94CysfsTer9 | |
| ENST00000375916.3:c.280_286del (APOM) | ENSP00000365081.3:p.Leu94CysfsTer9 | |
| ENST00000375918.6:c.64_70del (APOM) | ENSP00000365083.2:p.Leu22CysfsTer9 | |
| ENST00000375920.8:c.64_70del (APOM) | ENSP00000365085.4:p.Leu22CysfsTer9 | |
| NM_001256169.1:c.64_70del (APOM) | NP_001243098.1:p.Leu22CysfsTer9 | |
| NM_019101.2:c.280_286del (APOM) | NP_061974.2:p.Leu94CysfsTer9 | |
| NR_045828.1:n.315_321del (APOM) | ||
| XM_006715150.2:c.184_190del (APOM) | XP_006715213.1:p.Leu62CysfsTer9 | |
| XM_011514895.1:c.-14+3081_-14+3087del (BAG6) | XP_011513197.1:n.-14+3081_-14+3087del | |
| XM_006715150.3:c.184_190del (APOM) | XP_006715213.1:p.Leu62CysfsTer9 | |
| XM_017011279.2:c.-14+3081_-14+3087del (BAG6) | XP_016866768.1:n.-14+3081_-14+3087del | |
| XM_024446545.1:c.-14+524_-14+530del (BAG6) | XP_024302313.1:n.-14+524_-14+530del | |
| NM_019101.3:c.280_286del (APOM) MANE Select | NP_061974.2:p.Leu94CysfsTer9 | |
| NM_001256169.2:c.64_70del (APOM) | NP_001243098.1:p.Leu22CysfsTer9 | |
| NR_045828.2:n.321_327del (APOM) |