Linked Data
ClinVar Variation Id:
3968
ClinVar RCV Id:
RCV000004174
dbSNP Id:
rs587776585
gnomAD v4:
5-150398368-GA-G
MyVariant Identifiers:
chr5:g.149777939del (hg19)
chr5:g.149777932del (hg19)
chr5:g.150398376del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150398376del , CM000667.2:g.150398376del | GRCh38 |
| NC_000005.9:g.149777939del , CM000667.1:g.149777939del | GRCh37 |
| NC_000005.8:g.149758132del | NCBI36 |
| NG_011341.1:g.45738del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427724.7:c.4251del | ENSP00000390717.3:p.Glu1418LysfsTer? | |
| ENST00000643257.2:c.4368del MANE Select | ENSP00000493815.1:p.Glu1457LysfsTer? | |
| ENST00000650162.1:c.4023del | ENSP00000497075.1:p.Glu1342LysfsTer? | |
| ENST00000323668.11:c.4134del | ENSP00000325223.6:p.Glu1379LysfsTer? | |
| ENST00000377797.7:c.4365del | ENSP00000367028.4:p.Glu1456LysfsTer? | |
| ENST00000439160.6:c.4254del | ENSP00000406888.2:p.Glu1419LysfsTer? | |
| ENST00000445265.6:c.4137del | ENSP00000409944.2:p.Glu1380LysfsTer? | |
| ENST00000504761.6:c.4365del | ENSP00000421655.2:p.Glu1456LysfsTer? | |
| ENST00000513346.5:c.4365del | ENSP00000427484.1:p.Glu1456LysfsTer? | |
| ENST00000515516.1:c.465del | ENSP00000426471.1:p.Glu156LysfsTer? | |
| NM_000356.3:c.4134del | NP_000347.2:p.Glu1379LysfsTer? | |
| NM_001135243.1:c.4365del | NP_001128715.1:p.Glu1456LysfsTer? | |
| NM_001135244.1:c.4254del | NP_001128716.1:p.Glu1419LysfsTer? | |
| NM_001135245.1:c.4137del | NP_001128717.1:p.Glu1380LysfsTer? | |
| NM_001195141.1:c.4251del | NP_001182070.1:p.Glu1418LysfsTer? | |
| XM_005268502.2:c.4479del | XP_005268559.1:p.Glu1494LysfsTer? | |
| XM_005268503.2:c.4476del | XP_005268560.1:p.Glu1493LysfsTer? | |
| XM_005268504.2:c.4476del | XP_005268561.1:p.Glu1493LysfsTer? | |
| XM_005268505.2:c.4368del | XP_005268562.1:p.Glu1457LysfsTer? | |
| XM_005268506.2:c.4365del | XP_005268563.1:p.Glu1456LysfsTer? | |
| XM_005268507.2:c.4248del | XP_005268564.1:p.Glu1417LysfsTer? | |
| XM_011537678.1:c.4299del | XP_011535980.1:p.Glu1434LysfsTer? | |
| XM_005268502.4:c.4479del | XP_005268559.1:p.Glu1494LysfsTer? | |
| XM_005268503.4:c.4476del | XP_005268560.1:p.Glu1493LysfsTer? | |
| XM_005268504.4:c.4476del | XP_005268561.1:p.Glu1493LysfsTer? | |
| XM_005268505.4:c.4368del | XP_005268562.1:p.Glu1457LysfsTer? | |
| XM_005268506.4:c.4365del | XP_005268563.1:p.Glu1456LysfsTer? | |
| XM_005268507.4:c.4248del | XP_005268564.1:p.Glu1417LysfsTer? | |
| XM_011537678.3:c.4299del | XP_011535980.1:p.Glu1434LysfsTer? | |
| XM_017009792.2:c.4362del | XP_016865281.1:p.Glu1455LysfsTer? | |
| XM_017009793.2:c.4188del | XP_016865282.1:p.Glu1397LysfsTer? | |
| XM_017009794.2:c.4074del | XP_016865283.1:p.Glu1359LysfsTer? | |
| NM_000356.4:c.4134del | NP_000347.2:p.Glu1379LysfsTer? | |
| NM_001135244.2:c.4254del | NP_001128716.1:p.Glu1419LysfsTer? | |
| NM_001135245.2:c.4137del | NP_001128717.1:p.Glu1380LysfsTer? | |
| NM_001195141.2:c.4251del | NP_001182070.1:p.Glu1418LysfsTer? | |
| NM_001371623.1:c.4368del MANE Select | NP_001358552.1:p.Glu1457LysfsTer? | |
| NM_001135243.2:c.4365del | NP_001128715.1:p.Glu1456LysfsTer? |