Linked Data
dbSNP Id:
rs896460175
gnomAD v2:
9-127327707-AAAAC-A
gnomAD v3:
9-124565428-AAAAC-A
gnomAD v4:
9-124565428-AAAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124565448_124565451del , CM000671.2:g.124565448_124565451del | GRCh38 |
| NC_000009.11:g.127327727_127327730del , CM000671.1:g.127327727_127327730del | GRCh37 |
| NC_000009.10:g.126367548_126367551del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000487099.7:c.143-10862_143-10859del MANE Select | ENSP00000420267.1:n.143-10862_143-10859de... | |
| ENST00000344523.8:c.143-10862_143-10859del | ENSP00000341135.4:n.143-10862_143-10859de... | |
| ENST00000373584.7:c.143-10874_143-10871del | ENSP00000362686.3:n.143-10874_143-10871de... | |
| ENST00000416460.6:c.143-10874_143-10871del | ENSP00000413701.2:n.143-10874_143-10871de... | |
| ENST00000475178.1:c.17-10862_17-10859del | ENSP00000420587.1:n.17-10862_17-10859del | |
| ENST00000487099.6:c.143-10862_143-10859del | ENSP00000420267.1:n.143-10862_143-10859de... | |
| NM_001278546.1:c.143-10874_143-10871del | NP_001265475.1:n.143-10874_143-10871del | |
| NM_001489.4:c.143-10874_143-10871del | NP_001480.3:n.143-10874_143-10871del | |
| NM_033334.3:c.143-10862_143-10859del | NP_201591.2:n.143-10862_143-10859del | |
| XM_005251917.3:c.143-10862_143-10859del | XP_005251974.1:n.143-10862_143-10859del | |
| XM_005251918.3:c.17-10862_17-10859del | XP_005251975.1:n.17-10862_17-10859del | |
| XM_005251917.5:c.143-10862_143-10859del | XP_005251974.1:n.143-10862_143-10859del | |
| XM_005251918.5:c.17-10862_17-10859del | XP_005251975.1:n.17-10862_17-10859del | |
| NM_033334.4:c.143-10862_143-10859del MANE Select | NP_201591.2:n.143-10862_143-10859del | |
| NM_001278546.2:c.143-10874_143-10871del | NP_001265475.1:n.143-10874_143-10871del | |
| NM_001489.5:c.143-10874_143-10871del | NP_001480.3:n.143-10874_143-10871del |