Linked Data
ClinVar Variation Id:
281042
dbSNP Id:
rs769280599
ExAC:
17:7125572 GAGA / G
gnomAD v2:
17-7125572-GAGA-G
gnomAD v3:
17-7222253-GAGA-G
gnomAD v4:
17-7222253-GAGA-G
MyVariant Identifiers:
chr17:g.7125576_7125578del (hg19)
chr17:g.7125573_7125575del (hg19)
chr17:g.7125576_7125578delAGA (hg19)
chr17:g.7222257_7222259del (hg38)
chr17:g.7222254_7222256del (hg38)
ERepo:
CA8337864/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222257_7222259del , CM000679.2:g.7222257_7222259del | GRCh38 |
| NC_000017.10:g.7125576_7125578del , CM000679.1:g.7125576_7125578del | GRCh37 |
| NC_000017.9:g.7066300_7066302del | NCBI36 |
| NG_007975.1:g.7424_7426del | |
| NG_008391.2:g.2795_2797del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.833_835del MANE Select | ENSP00000349297.5:p.Lys278del | |
| ENST00000322910.9:c.*788_*790del | ENSP00000325395.5:n.*788_*790del | |
| ENST00000350303.9:c.767_769del | ENSP00000344152.5:p.Lys256del | |
| ENST00000356839.9:c.833_835del | ENSP00000349297.5:p.Lys278del | |
| ENST00000543245.6:c.902_904del | ENSP00000438689.2:p.Lys301del | |
| ENST00000577191.5:n.1005_1007del | ||
| ENST00000581378.5:c.551_553del | ||
| ENST00000582379.1:n.217_219del | ||
| NM_000018.3:c.833_835del | NP_000009.1:p.Lys278del | |
| NM_001033859.2:c.767_769del | NP_001029031.1:p.Lys256del | |
| NM_001270447.1:c.902_904del | NP_001257376.1:p.Lys301del | |
| NM_001270448.1:c.605_607del | NP_001257377.1:p.Lys202del | |
| XM_006721516.2:c.833_835del | XP_006721579.2:p.Lys278del | |
| XM_011523829.1:c.833_835del | XP_011522131.1:p.Lys278del | |
| XM_011523830.1:c.833_835del | XP_011522132.1:p.Lys278del | |
| XR_934021.1:n.940_942del | ||
| XR_934022.1:n.940_942del | ||
| XR_934023.1:n.940_942del | ||
| XM_006721516.3:c.833_835del | XP_006721579.2:p.Lys278del | |
| XM_011523829.2:c.833_835del | XP_011522131.1:p.Lys278del | |
| XM_011523830.2:c.833_835del | XP_011522132.1:p.Lys278del | |
| XM_024450741.1:c.833_835del | XP_024306509.1:p.Lys278del | |
| XR_934021.2:n.892_894del | ||
| XR_934022.2:n.892_894del | ||
| XR_934023.2:n.892_894del | ||
| NM_000018.4:c.833_835del MANE Select | NP_000009.1:p.Lys278del | |
| NM_001033859.3:c.767_769del | NP_001029031.1:p.Lys256del | |
| NM_001270447.2:c.902_904del | NP_001257376.1:p.Lys301del | |
| NM_001270448.2:c.605_607del | NP_001257377.1:p.Lys202del |