Linked Data
dbSNP Id:
rs776092483
ExAC:
1:47398498 AG / A
gnomAD v2:
1-47398498-AG-A
gnomAD v3:
1-46932826-AG-A
gnomAD v4:
1-46932826-AG-A
MyVariant Identifiers:
chr1:g.47398499del (hg19)
chr1:g.46932828del (hg38)
chr1:g.46932827del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932829del , CM000663.2:g.46932829del | GRCh38 |
| NC_000001.10:g.47398501del , CM000663.1:g.47398501del | GRCh37 |
| NC_000001.9:g.47171088del | NCBI36 |
| NG_007932.1:g.13658del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310638.9:c.1298del MANE Select | ENSP00000311095.4:p.Pro433LeufsTer? | |
| ENST00000310638.8:c.1298del | ENSP00000311095.4:p.Pro433LeufsTer? | |
| ENST00000371904.8:c.1301del | ENSP00000360971.4:p.Pro434LeufsTer? | |
| ENST00000371905.1:c.1298del | ENSP00000360972.1:p.Pro433LeufsTer? | |
| ENST00000462347.5:c.1004del | ENSP00000477495.1:p.Pro335LeufsTer? | |
| ENST00000465874.5:c.*96del | ENSP00000476368.1:n.*96del | |
| ENST00000468629.5:c.*3del | ENSP00000476619.1:n.*3del | |
| ENST00000474458.5:c.*3del | ENSP00000476988.1:n.*3del | |
| ENST00000475477.5:c.*92del | ENSP00000476854.1:n.*92del | |
| NM_000778.3:c.1298del | NP_000769.2:p.Pro433LeufsTer? | |
| XM_005270539.1:c.1004del | XP_005270596.1:p.Pro335LeufsTer? | |
| XM_011540826.1:c.1316del | XP_011539128.1:p.Pro439LeufsTer? | |
| XM_011540827.1:c.1022del | XP_011539129.1:p.Pro341LeufsTer? | |
| XM_011540828.1:c.1004del | XP_011539130.1:p.Pro335LeufsTer? | |
| XR_246241.1:n.1202del | ||
| XR_246242.1:n.1186del | ||
| NM_001319155.1:c.1202del | NP_001306084.1:p.Pro401LeufsTer? | |
| NM_001363587.1:c.1004del | NP_001350516.1:p.Pro335LeufsTer? | |
| NR_134988.1:n.1003del | ||
| NR_134989.1:n.1194del | ||
| NR_134990.1:n.1188del | ||
| NR_134991.1:n.1175del | ||
| NR_134992.1:n.804del | ||
| NR_134993.1:n.938del | ||
| NR_134994.1:n.1210del | ||
| XM_017000465.1:c.986del | XP_016855954.1:p.Pro329LeufsTer? | |
| XR_001737005.1:n.1276del | ||
| NM_000778.4:c.1298del MANE Select | NP_000769.2:p.Pro433LeufsTer? | |
| NM_001319155.2:c.1202del | NP_001306084.1:p.Pro401LeufsTer? | |
| NM_001363587.2:c.1004del | NP_001350516.1:p.Pro335LeufsTer? | |
| NR_134988.2:n.995del | ||
| NR_134989.2:n.1186del | ||
| NR_134990.2:n.1180del | ||
| NR_134991.2:n.1167del | ||
| NR_134992.2:n.796del | ||
| NR_134993.2:n.930del | ||
| NR_134994.2:n.1202del |