Linked Data
ClinVar Variation Id:
180210
ClinVar RCV Id:
RCV000157063
dbSNP Id:
rs727505392
gnomAD v4:
12-48981551-AC-A
PubMed:
PMID:23499309
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981553del , CM000674.2:g.48981553del | GRCh38 |
| NC_000012.11:g.49375336del , CM000674.1:g.49375336del | GRCh37 |
| NC_000012.10:g.47661603del | NCBI36 |
| NG_033141.1:g.8101del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000293549.4:c.1026del MANE Select | ENSP00000293549.3:p.Glu343SerfsTer? | |
| ENST00000293549.3:c.1026del | ENSP00000293549.3:p.Glu343SerfsTer? | |
| ENST00000613114.4:c.993del | ENSP00000481240.1:p.Glu332SerfsTer? | |
| NM_005430.3:c.1026del | NP_005421.1:p.Glu343SerfsTer? | |
| NM_005430.4:c.1026del MANE Select | NP_005421.1:p.Glu343SerfsTer? |