Linked Data
ClinVar Variation Id:
218347
ClinVar RCV Id:
RCV000202584
dbSNP Id:
rs864309498
PubMed:
PMID:27148581
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.83169560del , CM000673.2:g.83169560del | GRCh38 |
| NC_000011.9:g.82880602del , CM000673.1:g.82880602del | GRCh37 |
| NC_000011.8:g.82558250del | NCBI36 |
| NG_051805.1:g.17466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690938.1:c.3618del MANE Select | ENSP00000508500.1:p.Phe1206LeufsTer? | |
| ENST00000298281.8:c.3225del | ENSP00000298281.4:p.Phe1075LeufsTer? | |
| NM_015885.3:c.3225del | NP_056969.2:p.Phe1075LeufsTer? | |
| XM_005274048.1:c.3618del | XP_005274105.1:p.Phe1206LeufsTer? | |
| XM_005274049.1:c.3618del | XP_005274106.1:p.Phe1206LeufsTer? | |
| NM_001346413.1:c.3618del | NP_001333342.1:p.Phe1206LeufsTer? | |
| NM_001346414.1:c.3618del | NP_001333343.1:p.Phe1206LeufsTer? | |
| NM_001346415.1:c.3225del | NP_001333344.1:p.Phe1075LeufsTer? | |
| XR_001747905.1:n.3963del | ||
| XR_001747906.1:n.3570del | ||
| NM_001346413.2:c.3618del | NP_001333342.1:p.Phe1206LeufsTer? | |
| NM_001346414.2:c.3618del | NP_001333343.1:p.Phe1206LeufsTer? | |
| NM_001346415.2:c.3225del | NP_001333344.1:p.Phe1075LeufsTer? | |
| NM_015885.4:c.3225del | NP_056969.2:p.Phe1075LeufsTer? | |
| NM_001346413.3:c.3618del MANE Select | NP_001333342.1:p.Phe1206LeufsTer? |