Linked Data
dbSNP Id:
rs765705017
ExAC:
4:155490891 GGACCAT / G
gnomAD v2:
4-155490891-GGACCAT-G
gnomAD v4:
4-154569739-GGACCAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569746_154569751del , CM000666.2:g.154569746_154569751del | GRCh38 |
| NC_000004.11:g.155490898_155490903del , CM000666.1:g.155490898_155490903del | GRCh37 |
| NC_000004.10:g.155710348_155710353del | NCBI36 |
| NG_008833.1:g.11767_11772del , LRG_558:g.11767_11772del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1191_1196del MANE Select | ENSP00000306099.4:p.Met397_Thr398del | |
| ENST00000302068.8:c.1191_1196del | ENSP00000306099.4:p.Met397_Thr398del | |
| ENST00000502545.5:n.939+439_939+444del | ||
| ENST00000509493.1:c.534_539del | ENSP00000426757.1:p.Met178_Thr179del | |
| NM_001184741.1:c.1014_1019del | NP_001171670.1:p.Met338_Thr339del | |
| NM_005141.4:c.1191_1196del , LRG_558t1:c.1191_1196del | NP_005132.2:p.Met397_Thr398del | |
| NM_001382759.1:c.1059_1064del | NP_001369688.1:p.Met353_Thr354del | |
| NM_001382760.1:c.1191_1196del | NP_001369689.1:p.Met397_Thr398del | |
| NM_001382761.1:c.1191_1196del | NP_001369690.1:p.Met397_Thr398del | |
| NM_001382762.1:c.891_896del | NP_001369691.1:p.Met297_Thr298del | |
| NM_001382763.1:c.1182_1187del | NP_001369692.1:p.Met394_Thr395del | |
| NM_001382764.1:c.1081-27_1081-22del | NP_001369693.1:n.1081-27_1081-22del | |
| NM_001382765.1:c.1191_1196del | NP_001369694.1:p.Met397_Thr398del | |
| NM_005141.5:c.1191_1196del MANE Select | NP_005132.2:p.Met397_Thr398del |