Linked Data
ClinVar Variation Id:
265249
dbSNP Id:
rs587778515
ExAC:
1:43804375 CT / C
gnomAD v2:
1-43804375-CT-C
gnomAD v3:
1-43338704-CT-C
gnomAD v4:
1-43338704-CT-C
MyVariant Identifiers:
chr1:g.43804378del (hg19)
chr1:g.43804376del (hg19)
chr1:g.43338707del (hg38)
chr1:g.43338706del (hg38)
chr1:g.43338705del (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338707del , CM000663.2:g.43338707del | GRCh38 |
| NC_000001.10:g.43804378del , CM000663.1:g.43804378del | GRCh37 |
| NC_000001.9:g.43576965del | NCBI36 |
| NG_007525.1:g.5904del , LRG_510:g.5904del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372470.9:c.378del MANE Select | ENSP00000361548.3:p.Phe126LeufsTer5 | |
| ENST00000413998.7:c.357del | ENSP00000414004.3:p.Phe119LeufsTer5 | |
| ENST00000638732.1:n.378del | ||
| ENST00000372470.7:c.378del | ENSP00000361548.3:p.Phe126LeufsTer5 | |
| ENST00000413998.6:c.378del | ENSP00000414004.2:p.Phe126LeufsTer5 | |
| ENST00000612993.1:c.378del | ENSP00000480273.1:p.Phe126LeufsTer5 | |
| NM_005373.2:c.378del , LRG_510t1:c.378del | NP_005364.1:p.Phe126LeufsTer5 | |
| XM_011541478.1:c.357del | XP_011539780.1:p.Phe119LeufsTer5 | |
| XM_017001320.1:c.549del | XP_016856809.1:p.Phe183LeufsTer5 | |
| NM_005373.3:c.378del MANE Select | NP_005364.1:p.Phe126LeufsTer5 |