Linked Data
ClinVar Variation Id:
1451857
ClinVar RCV Id:
RCV001993360
dbSNP Id:
rs2153916495
gnomAD v4:
1-43338638-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338640del , CM000663.2:g.43338640del | GRCh38 |
| NC_000001.10:g.43804311del , CM000663.1:g.43804311del | GRCh37 |
| NC_000001.9:g.43576898del | NCBI36 |
| NG_007525.1:g.5837del , LRG_510:g.5837del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.311del MANE Select | ENSP00000361548.3:p.Phe104SerfsTer8 | |
| ENST00000413998.7:c.290del | ENSP00000414004.3:p.Phe97SerfsTer8 | |
| ENST00000638732.1:n.311del | ||
| ENST00000372470.7:c.311del | ENSP00000361548.3:p.Phe104SerfsTer8 | |
| ENST00000413998.6:c.311del | ENSP00000414004.2:p.Phe104SerfsTer8 | |
| ENST00000612993.1:c.311del | ENSP00000480273.1:p.Phe104SerfsTer8 | |
| NM_005373.2:c.311del , LRG_510t1:c.311del | NP_005364.1:p.Phe104SerfsTer8 | |
| XM_011541478.1:c.290del | XP_011539780.1:p.Phe97SerfsTer8 | |
| XM_017001320.1:c.482del | XP_016856809.1:p.Phe161SerfsTer8 | |
| NM_005373.3:c.311del MANE Select | NP_005364.1:p.Phe104SerfsTer8 |