Linked Data
ClinVar Variation Id:
218381
ClinVar RCV Id:
RCV000202634
dbSNP Id:
rs864309533
gnomAD v2:
9-104187258-AG-A
gnomAD v3:
9-101424976-AG-A
gnomAD v4:
9-101424976-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101424978del , CM000671.2:g.101424978del | GRCh38 |
| NC_000009.11:g.104187260del , CM000671.1:g.104187260del | GRCh37 |
| NC_000009.10:g.103227081del | NCBI36 |
| NG_012387.1:g.15804del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.865del MANE Select | ENSP00000497767.1:p.Leu289PhefsTer10 | |
| ENST00000648064.1:c.865del | ENSP00000497990.1:p.Leu289PhefsTer10 | |
| ENST00000648758.1:c.865del | ENSP00000497731.1:p.Leu289PhefsTer10 | |
| ENST00000649902.1:c.865del | ENSP00000497216.1:p.Leu289PhefsTer10 | |
| ENST00000374855.8:c.865del | ENSP00000363988.4:p.Leu289PhefsTer10 | |
| ENST00000616752.1:c.865del | ENSP00000481363.1:p.Leu289PhefsTer10 | |
| NM_000035.3:c.865del | NP_000026.2:p.Leu289PhefsTer10 | |
| NM_000035.4:c.865del MANE Select | NP_000026.2:p.Leu289PhefsTer10 |