Linked Data
dbSNP Id:
rs771601621
ExAC:
9:107646741 GC / G
gnomAD v2:
9-107646741-GC-G
gnomAD v4:
9-104884460-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104884462del , CM000671.2:g.104884462del | GRCh38 |
| NC_000009.11:g.107646743del , CM000671.1:g.107646743del | GRCh37 |
| NC_000009.10:g.106686564del | NCBI36 |
| NG_007981.1:g.48695del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.268del MANE Select | ENSP00000363868.3:p.Ala90LeufsTer? | |
| ENST00000678995.1:c.268del | ENSP00000504612.1:p.Ala90LeufsTer? | |
| ENST00000374733.1:c.88del | ENSP00000363865.1:p.Ala30LeufsTer? | |
| ENST00000374736.7:c.268del | ENSP00000363868.3:p.Ala90LeufsTer? | |
| ENST00000423487.6:c.268del | ENSP00000416623.2:p.Ala90LeufsTer? | |
| NM_005502.3:c.268del | NP_005493.2:p.Ala90LeufsTer? | |
| XM_005251773.1:c.268del | XP_005251830.1:p.Ala90LeufsTer? | |
| XM_005251776.1:c.88del | XP_005251833.1:p.Ala30LeufsTer? | |
| XM_011518339.1:c.343del | XP_011516641.1:p.Ala115LeufsTer? | |
| XM_011518340.1:c.343del | XP_011516642.1:p.Ala115LeufsTer? | |
| XM_011518341.1:c.343del | XP_011516643.1:p.Ala115LeufsTer? | |
| XM_011518342.1:c.-61-1304del | XP_011516644.1:n.-61-1304del | |
| XM_011518343.1:c.343del | XP_011516645.1:p.Ala115LeufsTer? | |
| XM_011518344.1:c.343del | XP_011516646.1:p.Ala115LeufsTer? | |
| XM_005251773.3:c.268del | XP_005251830.1:p.Ala90LeufsTer? | |
| XM_005251776.3:c.88del | XP_005251833.1:p.Ala30LeufsTer? | |
| XM_011518339.3:c.343del | XP_011516641.1:p.Ala115LeufsTer? | |
| XM_011518340.3:c.343del | XP_011516642.1:p.Ala115LeufsTer? | |
| XM_011518341.3:c.343del | XP_011516643.1:p.Ala115LeufsTer? | |
| XM_011518342.3:c.-61-1304del | XP_011516644.1:n.-61-1304del | |
| XM_011518344.2:c.343del | XP_011516646.1:p.Ala115LeufsTer? | |
| XM_017014378.2:c.343del | XP_016869867.1:p.Ala115LeufsTer? | |
| XM_017014379.2:c.343del | XP_016869868.1:p.Ala115LeufsTer? | |
| XM_017014380.2:c.343del | XP_016869869.1:p.Ala115LeufsTer? | |
| XM_017014381.2:c.343del | XP_016869870.1:p.Ala115LeufsTer? | |
| XM_017014382.2:c.205del | XP_016869871.1:p.Ala69LeufsTer? | |
| XR_001746223.1:n.656del | ||
| NM_005502.4:c.268del MANE Select | NP_005493.2:p.Ala90LeufsTer? |