Linked Data
ClinVar Variation Id:
370824
ClinVar RCV Id:
RCV000409230
dbSNP Id:
rs1057516796
gnomAD v4:
7-107704362-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107704363del , CM000669.2:g.107704363del | GRCh38 |
| NC_000007.13:g.107344808del , CM000669.1:g.107344808del | GRCh37 |
| NC_000007.12:g.107132044del | NCBI36 |
| NG_008489.1:g.48729del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.2067del MANE Select | ENSP00000494017.1:p.Asn689LysfsTer11 | |
| ENST00000644846.1:c.745+2306del | ||
| ENST00000265715.7:c.2067del | ENSP00000265715.3:p.Asn689LysfsTer11 | |
| ENST00000492030.2:n.354del | ||
| NM_000441.1:c.2067del | NP_000432.1:p.Asn689LysfsTer11 | |
| XM_005250425.1:c.2067del | XP_005250482.1:p.Asn689LysfsTer11 | |
| XM_005250425.2:c.2067del | XP_005250482.1:p.Asn689LysfsTer11 | |
| XM_017012318.1:c.1989del | XP_016867807.1:p.Asn663LysfsTer11 | |
| NM_000441.2:c.2067del MANE Select | NP_000432.1:p.Asn689LysfsTer11 |