Linked Data
dbSNP Id:
rs781287745
ExAC:
8:87683366 AAG / A
gnomAD v2:
8-87683366-AAG-A
gnomAD v3:
8-86671138-AAG-A
gnomAD v4:
8-86671138-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671140_86671141del , CM000670.2:g.86671140_86671141del | GRCh38 |
| NC_000008.10:g.87683368_87683369del , CM000670.1:g.87683368_87683369del | GRCh37 |
| NC_000008.9:g.87752484_87752485del | NCBI36 |
| NG_016980.1:g.77536_77537del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.339-42_339-41del MANE Select | ENSP00000316605.5:n.339-42_339-41del | |
| ENST00000680314.1:n.100-42_100-41del | ||
| ENST00000681746.1:c.339-42_339-41del | ENSP00000505959.1:n.339-42_339-41del | |
| ENST00000320005.5:c.339-42_339-41del | ENSP00000316605.5:n.339-42_339-41del | |
| NM_019098.4:c.339-42_339-41del | NP_061971.3:n.339-42_339-41del | |
| XM_011517138.1:c.-76-42_-76-41del | XP_011515440.1:n.-76-42_-76-41del | |
| XM_011517138.2:c.-76-42_-76-41del | XP_011515440.1:n.-76-42_-76-41del | |
| NM_019098.5:c.339-42_339-41del MANE Select | NP_061971.3:n.339-42_339-41del |