Linked Data
ClinVar Variation Id:
1608
ClinVar RCV Id:
RCV000001675
dbSNP Id:
rs786200869
gnomAD v4:
14-50265438-CA-C
PubMed:
PMID:15385440
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50265439del , CM000676.2:g.50265439del | GRCh38 |
| NC_000014.8:g.50732157del , CM000676.1:g.50732157del | GRCh37 |
| NC_000014.7:g.49801907del | NCBI36 |
| NG_008092.1:g.51791del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267436.9:c.1115del MANE Select | ENSP00000267436.4:p.Met372SerfsTer11 | |
| ENST00000261699.8:c.1115del | ENSP00000261699.4:p.Met372SerfsTer11 | |
| ENST00000267436.8:c.1115del | ENSP00000267436.4:p.Met372SerfsTer11 | |
| ENST00000421284.7:c.1115del | ENSP00000405559.3:p.Met372SerfsTer11 | |
| NM_024884.2:c.1115del | NP_079160.1:p.Met372SerfsTer11 | |
| XM_005268075.3:c.1115del | XP_005268132.1:p.Met372SerfsTer11 | |
| XM_011537166.1:c.1004del | XP_011535468.1:p.Met335SerfsTer11 | |
| XM_011537167.1:c.980del | XP_011535469.1:p.Met327SerfsTer11 | |
| XM_011537168.1:c.569del | XP_011535470.1:p.Met190SerfsTer11 | |
| XM_011537169.1:c.569del | XP_011535471.1:p.Met190SerfsTer11 | |
| XM_005268075.5:c.1115del | XP_005268132.1:p.Met372SerfsTer11 | |
| XM_011537166.3:c.1004del | XP_011535468.1:p.Met335SerfsTer11 | |
| XM_011537167.3:c.980del | XP_011535469.1:p.Met327SerfsTer11 | |
| XM_011537168.3:c.569del | XP_011535470.1:p.Met190SerfsTer11 | |
| XM_017021655.2:c.1004del | XP_016877144.1:p.Met335SerfsTer11 | |
| XM_017021656.2:c.569del | XP_016877145.1:p.Met190SerfsTer11 | |
| XM_017021657.2:c.569del | XP_016877146.1:p.Met190SerfsTer11 | |
| NM_024884.3:c.1115del MANE Select | NP_079160.1:p.Met372SerfsTer11 |