Linked Data
dbSNP Id:
rs772172179
gnomAD v2:
17-61564388-GGCCACTGTGT-G
gnomAD v4:
17-63487027-GGCCACTGTGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63487033_63487042del , CM000679.2:g.63487033_63487042del | GRCh38 |
| NC_000017.10:g.61564394_61564403del , CM000679.1:g.61564394_61564403del | GRCh37 |
| NC_000017.9:g.58918126_58918135del | NCBI36 |
| NG_011648.1:g.14961_14970del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2265_2274del MANE Select | ENSP00000290866.4:p.Val756ArgfsTer12 | |
| ENST00000290863.10:c.543_552del | ENSP00000290863.6:p.Val182ArgfsTer12 | |
| ENST00000290866.9:c.2265_2274del | ENSP00000290866.4:p.Val756ArgfsTer12 | |
| ENST00000413513.7:c.543_552del | ENSP00000392247.3:p.Val182ArgfsTer12 | |
| ENST00000428043.5:c.2265_2274del | ENSP00000397593.2:p.Val756ArgfsTer12 | |
| ENST00000577647.2:c.543_552del | ENSP00000464149.1:p.Val182ArgfsTer12 | |
| ENST00000578839.5:c.*335_*344del | ENSP00000462110.2:n.*335_*344del | |
| ENST00000579204.1:c.446_455del | ENSP00000464629.1:n.446_455del | |
| ENST00000579314.5:c.543_552del | ENSP00000462599.1:p.Val182ArgfsTer12 | |
| ENST00000579726.5:c.827_836del | ||
| ENST00000582005.5:c.*185_*194del | ENSP00000462002.1:n.*185_*194del | |
| ENST00000582761.1:c.33_42del | ENSP00000462909.1:p.Val12ArgfsTer12 | |
| ENST00000584865.5:n.211_220del | ||
| NM_000789.3:c.2265_2274del | NP_000780.1:p.Val756ArgfsTer12 | |
| NM_001178057.1:c.543_552del | NP_001171528.1:p.Val182ArgfsTer12 | |
| NM_152830.2:c.543_552del | NP_690043.1:p.Val182ArgfsTer12 | |
| XM_005257110.1:c.1716_1725del | XP_005257167.1:p.Val573ArgfsTer12 | |
| XM_006721737.2:c.603_612del | XP_006721800.2:p.Val202ArgfsTer12 | |
| XM_006721737.3:c.603_612del | XP_006721800.2:p.Val202ArgfsTer12 | |
| NM_000789.4:c.2265_2274del MANE Select | NP_000780.1:p.Val756ArgfsTer12 | |
| NM_001178057.2:c.543_552del | NP_001171528.1:p.Val182ArgfsTer12 | |
| NM_152830.3:c.543_552del | NP_690043.1:p.Val182ArgfsTer12 | |
| NM_001382700.1:c.1698_1707del | NP_001369629.1:p.Val567ArgfsTer12 | |
| NM_001382701.1:c.1413_1422del | NP_001369630.1:p.Val472ArgfsTer12 | |
| NM_001382702.1:c.195_204del | NP_001369631.1:p.Val66ArgfsTer12 | |
| NR_168483.1:n.565_574del |