Linked Data
dbSNP Id:
rs1208020762
gnomAD v2:
2-85890549-GGGTGGTCACGGACATGCAGA-G
gnomAD v3:
2-85663426-GGGTGGTCACGGACATGCAGA-G
gnomAD v4:
2-85663426-GGGTGGTCACGGACATGCAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85663432_85663451del , CM000664.2:g.85663432_85663451del | GRCh38 |
| NC_000002.11:g.85890555_85890574del , CM000664.1:g.85890555_85890574del | GRCh37 |
| NC_000002.10:g.85744066_85744085del | NCBI36 |
| NG_016967.1:g.10296_10315del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.902_921del | ENSP00000386346.2:p.Leu301ProfsTer? | |
| ENST00000519937.7:c.902_921del MANE Select | ENSP00000428719.2:p.Leu301ProfsTer? | |
| ENST00000393822.7:c.902_921del | ENSP00000377409.4:p.Leu301ProfsTer? | |
| ENST00000409383.5:c.938_957del | ENSP00000386346.1:p.Leu313ProfsTer? | |
| ENST00000428225.5:c.879_898del | ||
| ENST00000491167.1:n.102_121del | ||
| ENST00000494165.1:c.33_52del | ||
| ENST00000519937.6:c.902_921del | ENSP00000428719.2:p.Leu301ProfsTer? | |
| NM_000542.3:c.938_957del | NP_000533.3:p.Leu313ProfsTer? | |
| NM_198843.2:c.938_957del | NP_942140.2:p.Leu313ProfsTer? | |
| XM_005264487.2:c.938_957del | XP_005264544.1:p.Leu313ProfsTer? | |
| XM_005264488.2:c.890_909del | XP_005264545.2:p.Leu297ProfsTer? | |
| XM_005264490.3:c.902_921del | XP_005264547.2:p.Leu301ProfsTer? | |
| XM_005264488.4:c.890_909del | XP_005264545.2:p.Leu297ProfsTer? | |
| XM_005264490.4:c.902_921del | XP_005264547.2:p.Leu301ProfsTer? | |
| NM_000542.4:c.902_921del | NP_000533.4:p.Leu301ProfsTer? | |
| NM_001367281.1:c.902_921del | NP_001354210.1:p.Leu301ProfsTer? | |
| NM_198843.3:c.902_921del | NP_942140.3:p.Leu301ProfsTer? | |
| NM_000542.5:c.902_921del MANE Select | NP_000533.4:p.Leu301ProfsTer? |