Linked Data
ClinVar Variation Id:
3000119
ClinVar RCV Id:
RCV003857294
dbSNP Id:
rs1554894469
gnomAD v4:
11-2583515-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583517_2583518del , CM000673.2:g.2583517_2583518del | GRCh38 |
| NC_000011.9:g.2604747_2604748del , CM000673.1:g.2604747_2604748del | GRCh37 |
| NC_000011.8:g.2561323_2561324del | NCBI36 |
| NG_008935.1:g.143527_143528del , LRG_287:g.143527_143528del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.743_744del | ENSP00000434560.2:p.Phe248CysfsTer? | |
| ENST00000646564.2:c.560_561del | ENSP00000495806.2:p.Phe187CysfsTer? | |
| ENST00000155840.12:c.1004_1005del MANE Select | ENSP00000155840.2:p.Phe335CysfsTer? | |
| ENST00000335475.6:c.623_624del | ENSP00000334497.5:p.Phe208CysfsTer? | |
| ENST00000646564.1:c.206_207del | ENSP00000495806.1:p.Phe69CysfsTer? | |
| ENST00000155840.9:c.1004_1005del | ENSP00000155840.2:p.Phe335CysfsTer? | |
| ENST00000335475.5:c.623_624del | ENSP00000334497.5:p.Phe208CysfsTer? | |
| NM_000218.2:c.1004_1005del , LRG_287t1:c.1004_1005del | NP_000209.2:p.Phe335CysfsTer? | |
| NM_181798.1:c.623_624del , LRG_287t2:c.623_624del | NP_861463.1:p.Phe208CysfsTer? | |
| NM_000218.3:c.1004_1005del MANE Select | NP_000209.2:p.Phe335CysfsTer? |