Linked Data
dbSNP Id:
rs745321987
gnomAD v2:
5-176562028-TAA-T
gnomAD v3:
5-177135027-TAA-T
gnomAD v4:
5-177135027-TAA-T
COSMIC:
COSN17137986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177135029_177135030del , CM000667.2:g.177135029_177135030del | GRCh38 |
| NC_000005.9:g.176562030_176562031del , CM000667.1:g.176562030_176562031del | GRCh37 |
| NC_000005.8:g.176494636_176494637del | NCBI36 |
| NG_009821.1:g.6951_6952del , LRG_512:g.6951_6952del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.-150-58_-150-57del | ENSP00000423372.3:n.-150-58_-150-57del | |
| ENST00000347982.9:c.-150-58_-150-57del | ENSP00000343209.5:n.-150-58_-150-57del | |
| ENST00000354179.9:c.-150-58_-150-57del | ENSP00000346111.5:n.-150-58_-150-57del | |
| ENST00000508896.6:c.-150-58_-150-57del | ENSP00000423372.2:n.-150-58_-150-57del | |
| ENST00000510954.6:n.100-58_100-57del | ||
| ENST00000511258.6:c.-150-58_-150-57del | ENSP00000426428.2:n.-150-58_-150-57del | |
| ENST00000686993.1:c.-150-58_-150-57del | ENSP00000510020.1:n.-150-58_-150-57del | |
| ENST00000689326.1:c.-17-58_-17-57del | ENSP00000509594.1:n.-17-58_-17-57del | |
| ENST00000689345.1:c.-150-58_-150-57del | ENSP00000509711.1:n.-150-58_-150-57del | |
| ENST00000689549.1:n.131-58_131-57del | ||
| ENST00000439151.7:c.-17-58_-17-57del MANE Select | ENSP00000395929.2:n.-17-58_-17-57del | |
| ENST00000347982.8:c.-84-58_-84-57del | ENSP00000343209.4:n.-84-58_-84-57del | |
| ENST00000354179.8:c.-84-58_-84-57del | ENSP00000346111.4:n.-84-58_-84-57del | |
| ENST00000439151.6:c.-17-58_-17-57del | ENSP00000395929.2:n.-17-58_-17-57del | |
| ENST00000508896.5:c.-84-58_-84-57del | ENSP00000423372.1:n.-84-58_-84-57del | |
| ENST00000510954.5:c.-84-58_-84-57del | ENSP00000423982.1:n.-84-58_-84-57del | |
| ENST00000511258.5:c.-84-58_-84-57del | ENSP00000426428.1:n.-84-58_-84-57del | |
| ENST00000512992.1:n.131-58_131-57del | ||
| ENST00000602285.1:n.156-58_156-57del | ||
| NM_022455.4:c.-17-58_-17-57del , LRG_512t1:c.-17-58_-17-57del | NP_071900.2:n.-17-58_-17-57del | |
| NM_172349.2:c.-84-58_-84-57del | NP_758859.1:n.-84-58_-84-57del | |
| XM_005265959.1:c.-17-58_-17-57del | XP_005266016.1:n.-17-58_-17-57del | |
| XM_005265960.1:c.-84-58_-84-57del | XP_005266017.1:n.-84-58_-84-57del | |
| XM_005265961.1:c.-84-58_-84-57del | XP_005266018.1:n.-84-58_-84-57del | |
| XM_011534610.1:c.-17-58_-17-57del | XP_011532912.1:n.-17-58_-17-57del | |
| XM_011534611.1:c.-17-58_-17-57del | XP_011532913.1:n.-17-58_-17-57del | |
| XM_011534612.1:c.-17-58_-17-57del | XP_011532914.1:n.-17-58_-17-57del | |
| XM_011534614.1:c.-17-58_-17-57del | XP_011532916.1:n.-17-58_-17-57del | |
| XM_011534615.1:c.-17-58_-17-57del | XP_011532917.1:n.-17-58_-17-57del | |
| XM_011534616.1:c.-17-58_-17-57del | XP_011532918.1:n.-17-58_-17-57del | |
| NM_001365684.1:c.-84-58_-84-57del | NP_001352613.1:n.-84-58_-84-57del | |
| XM_024446150.1:c.-17-58_-17-57del | XP_024301918.1:n.-17-58_-17-57del | |
| XM_024446151.1:c.-17-58_-17-57del | XP_024301919.1:n.-17-58_-17-57del | |
| XM_024446152.1:c.-17-58_-17-57del | XP_024301920.1:n.-17-58_-17-57del | |
| XM_024446153.1:c.-17-58_-17-57del | XP_024301921.1:n.-17-58_-17-57del | |
| XM_024446154.1:c.-17-58_-17-57del | XP_024301922.1:n.-17-58_-17-57del | |
| XM_024446155.1:c.-84-58_-84-57del | XP_024301923.1:n.-84-58_-84-57del | |
| XM_024446156.1:c.-84-58_-84-57del | XP_024301924.1:n.-84-58_-84-57del | |
| XM_024446158.1:c.-84-58_-84-57del | XP_024301926.1:n.-84-58_-84-57del | |
| XM_024446160.1:c.-17-58_-17-57del | XP_024301928.1:n.-17-58_-17-57del | |
| XM_024446161.1:c.-17-58_-17-57del | XP_024301929.1:n.-17-58_-17-57del | |
| NM_022455.5:c.-17-58_-17-57del MANE Select | NP_071900.2:n.-17-58_-17-57del | |
| NM_172349.3:c.-84-58_-84-57del | NP_758859.1:n.-84-58_-84-57del |