Linked Data
dbSNP Id:
rs780791374
ExAC:
6:31625296 AG / A
gnomAD v2:
6-31625296-AG-A
gnomAD v4:
6-31657519-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31657522del , CM000668.2:g.31657522del | GRCh38 |
| NC_000006.11:g.31625299del , CM000668.1:g.31625299del | GRCh37 |
| NC_000006.10:g.31733278del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375916.4:c.442+44del (APOM) MANE Select | ENSP00000365081.3:n.442+44del | |
| ENST00000375916.3:c.442+44del (APOM) | ENSP00000365081.3:n.442+44del | |
| ENST00000375918.6:c.226+44del (APOM) | ENSP00000365083.2:n.226+44del | |
| ENST00000375920.8:c.226+44del (APOM) | ENSP00000365085.4:n.226+44del | |
| NM_001256169.1:c.226+44del (APOM) | NP_001243098.1:n.226+44del | |
| NM_019101.2:c.442+44del (APOM) | NP_061974.2:n.442+44del | |
| NR_045828.1:n.477+44del (APOM) | ||
| XM_006715150.2:c.346+44del (APOM) | XP_006715213.1:n.346+44del | |
| XM_011514895.1:c.-14+2801del (BAG6) | XP_011513197.1:n.-14+2801del | |
| XM_006715150.3:c.346+44del (APOM) | XP_006715213.1:n.346+44del | |
| XM_017011279.2:c.-14+2801del (BAG6) | XP_016866768.1:n.-14+2801del | |
| XM_024446545.1:c.-14+244del (BAG6) | XP_024302313.1:n.-14+244del | |
| NM_019101.3:c.442+44del (APOM) MANE Select | NP_061974.2:n.442+44del | |
| NM_001256169.2:c.226+44del (APOM) | NP_001243098.1:n.226+44del | |
| NR_045828.2:n.483+44del (APOM) |