Linked Data
ClinVar Variation Id:
2925112
ClinVar RCV Id:
RCV003780766
dbSNP Id:
rs1847159732
gnomAD v4:
10-119672244-GTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672248_119672249del , CM000672.2:g.119672248_119672249del | GRCh38 |
| NC_000010.10:g.121431760_121431761del , CM000672.1:g.121431760_121431761del | GRCh37 |
| NC_000010.9:g.121421750_121421751del | NCBI36 |
| NG_016125.1:g.25879_25880del , LRG_742:g.25879_25880del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.508-7_508-6del MANE Select | ENSP00000358081.4:n.508-7_508-6del | |
| ENST00000369085.7:c.508-7_508-6del | ENSP00000358081.3:n.508-7_508-6del | |
| ENST00000450186.1:c.334-7_334-6del | ENSP00000410036.1:n.334-7_334-6del | |
| NM_004281.3:c.508-7_508-6del , LRG_742t1:c.508-7_508-6del | NP_004272.2:n.508-7_508-6del | |
| XM_005270287.1:c.508-7_508-6del | XP_005270344.1:n.508-7_508-6del | |
| XM_005270287.2:c.508-7_508-6del | XP_005270344.1:n.508-7_508-6del | |
| NM_004281.4:c.508-7_508-6del MANE Select | NP_004272.2:n.508-7_508-6del |