Linked Data
ClinVar Variation Id:
203589
dbSNP Id:
rs796051913
ExAC:
17:7125569 AAGG / A
gnomAD v2:
17-7125569-AAGG-A
gnomAD v3:
17-7222250-AAGG-A
gnomAD v4:
17-7222250-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222253_7222255del , CM000679.2:g.7222253_7222255del | GRCh38 |
| NC_000017.10:g.7125572_7125574del , CM000679.1:g.7125572_7125574del | GRCh37 |
| NC_000017.9:g.7066296_7066298del | NCBI36 |
| NG_007975.1:g.7420_7422del | |
| NG_008391.2:g.2798_2800del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.829_831del MANE Select | ENSP00000349297.5:p.Glu277del | |
| ENST00000322910.9:c.*784_*786del | ENSP00000325395.5:n.*784_*786del | |
| ENST00000350303.9:c.763_765del | ENSP00000344152.5:p.Glu255del | |
| ENST00000356839.9:c.829_831del | ENSP00000349297.5:p.Glu277del | |
| ENST00000543245.6:c.898_900del | ENSP00000438689.2:p.Glu300del | |
| ENST00000577191.5:n.1001_1003del | ||
| ENST00000581378.5:c.547_549del | ||
| ENST00000582379.1:n.213_215del | ||
| NM_000018.3:c.829_831del | NP_000009.1:p.Glu277del | |
| NM_001033859.2:c.763_765del | NP_001029031.1:p.Glu255del | |
| NM_001270447.1:c.898_900del | NP_001257376.1:p.Glu300del | |
| NM_001270448.1:c.601_603del | NP_001257377.1:p.Glu201del | |
| XM_006721516.2:c.829_831del | XP_006721579.2:p.Glu277del | |
| XM_011523829.1:c.829_831del | XP_011522131.1:p.Glu277del | |
| XM_011523830.1:c.829_831del | XP_011522132.1:p.Glu277del | |
| XR_934021.1:n.936_938del | ||
| XR_934022.1:n.936_938del | ||
| XR_934023.1:n.936_938del | ||
| XM_006721516.3:c.829_831del | XP_006721579.2:p.Glu277del | |
| XM_011523829.2:c.829_831del | XP_011522131.1:p.Glu277del | |
| XM_011523830.2:c.829_831del | XP_011522132.1:p.Glu277del | |
| XM_024450741.1:c.829_831del | XP_024306509.1:p.Glu277del | |
| XR_934021.2:n.888_890del | ||
| XR_934022.2:n.888_890del | ||
| XR_934023.2:n.888_890del | ||
| NM_000018.4:c.829_831del MANE Select | NP_000009.1:p.Glu277del | |
| NM_001033859.3:c.763_765del | NP_001029031.1:p.Glu255del | |
| NM_001270447.2:c.898_900del | NP_001257376.1:p.Glu300del | |
| NM_001270448.2:c.601_603del | NP_001257377.1:p.Glu201del |