Linked Data
dbSNP Id:
rs761139928
ExAC:
2:135893234 CAGG / C
gnomAD v2:
2-135893234-CAGG-C
gnomAD v3:
2-135135664-CAGG-C
gnomAD v4:
2-135135664-CAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135135667_135135669del , CM000664.2:g.135135667_135135669del | GRCh38 |
| NC_000002.11:g.135893237_135893239del , CM000664.1:g.135893237_135893239del | GRCh37 |
| NC_000002.10:g.135609707_135609709del | NCBI36 |
| NG_016972.1:g.88403_88405del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.1658_1660del | ENSP00000444306.2:p.Gly553del | |
| ENST00000685967.1:c.*1115_*1117del | ENSP00000508423.1:n.*1115_*1117del | |
| ENST00000686114.1:n.2004_2006del | ||
| ENST00000687199.1:c.*1726_*1728del | ENSP00000510319.1:n.*1726_*1728del | |
| ENST00000688088.1:n.1677_1679del | ||
| ENST00000688182.1:c.151-32026_151-32024del | ENSP00000509324.1:n.151-32026_151-32024del | |
| ENST00000689880.1:n.1677_1679del | ||
| ENST00000690208.1:c.*1336_*1338del | ENSP00000510746.1:n.*1336_*1338del | |
| ENST00000690785.1:n.1677_1679del | ||
| ENST00000691339.1:c.*1281_*1283del | ENSP00000509953.1:n.*1281_*1283del | |
| ENST00000691478.1:c.*1757_*1759del | ENSP00000509081.1:n.*1757_*1759del | |
| ENST00000693554.1:c.1658_1660del | ENSP00000509030.1:p.Gly553del | |
| ENST00000264158.13:c.1658_1660del MANE Select | ENSP00000264158.8:p.Gly553del | |
| ENST00000264158.12:c.1658_1660del | ENSP00000264158.7:p.Gly553del | |
| ENST00000442034.5:c.1658_1660del | ENSP00000411418.1:p.Gly553del | |
| ENST00000487003.5:n.1727_1729del | ||
| ENST00000539493.2:c.1526_1528del | ENSP00000444306.1:p.Gly509del | |
| NM_001172435.1:c.1658_1660del | NP_001165906.1:p.Gly553del | |
| NM_012233.2:c.1658_1660del | NP_036365.1:p.Gly553del | |
| XM_011510822.1:c.1658_1660del | XP_011509124.1:p.Gly553del | |
| XM_011510823.1:c.1658_1660del | XP_011509125.1:p.Gly553del | |
| XM_011510824.1:c.1658_1660del | XP_011509126.1:p.Gly553del | |
| XM_011510825.1:c.1658_1660del | XP_011509127.1:p.Gly553del | |
| XM_011510823.3:c.1658_1660del | XP_011509125.1:p.Gly553del | |
| XM_011510825.3:c.1658_1660del | XP_011509127.1:p.Gly553del | |
| XR_001738674.2:n.1685_1687del | ||
| NM_001172435.2:c.1658_1660del | NP_001165906.1:p.Gly553del | |
| NM_012233.3:c.1658_1660del MANE Select | NP_036365.1:p.Gly553del |