Linked Data
ClinVar Variation Id:
183390
ClinVar RCV Id:
RCV000162204
dbSNP Id:
rs786201006
gnomAD v4:
5-159323112-CAGGAGCGA-C
PubMed:
PMID:24127073
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323114_159323121del , CM000667.2:g.159323114_159323121del | GRCh38 |
| NC_000005.9:g.158750122_158750129del , CM000667.1:g.158750122_158750129del | GRCh37 |
| NC_000005.8:g.158682700_158682707del | NCBI36 |
| NG_009618.1:g.12354_12361del , LRG_71:g.12354_12361del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-148-2600_-148-2593del | ENSP00000512849.1:n.-148-2600_-148-2593de... | |
| ENST00000696751.1:c.298_305del | ENSP00000512850.1:p.Ser100AlafsTer13 | |
| ENST00000231228.3:c.298_305del MANE Select | ENSP00000231228.2:p.Ser100AlafsTer13 | |
| ENST00000231228.2:c.298_305del | ENSP00000231228.2:p.Ser100AlafsTer13 | |
| NM_002187.2:c.298_305del , LRG_71t1:c.298_305del | NP_002178.2:p.Ser100AlafsTer13 | |
| XR_001742945.1:n.148-2420_148-2413del | ||
| NM_002187.3:c.298_305del MANE Select | NP_002178.2:p.Ser100AlafsTer13 |