Linked Data
ClinVar Variation Id:
503502
ClinVar RCV Id:
RCV000597606
dbSNP Id:
rs773435101
ExAC:
7:23300245 CTGTT / C
gnomAD v2:
7-23300245-CTGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23260632_23260635del , CM000669.2:g.23260632_23260635del | GRCh38 |
| NC_000007.13:g.23300251_23300254del , CM000669.1:g.23300251_23300254del | GRCh37 |
| NC_000007.12:g.23266776_23266779del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258733.9:c.877_880del MANE Select | ENSP00000258733.5:p.Val293ProfsTer6 | |
| ENST00000647578.1:c.877_880del | ENSP00000497362.1:p.Val293ProfsTer6 | |
| ENST00000258733.8:c.877_880del | ENSP00000258733.4:p.Val293ProfsTer6 | |
| ENST00000381990.6:c.877_880del | ENSP00000371420.2:p.Val293ProfsTer6 | |
| NM_001005340.1:c.877_880del | NP_001005340.1:p.Val293ProfsTer6 | |
| NM_002510.2:c.877_880del | NP_002501.1:p.Val293ProfsTer6 | |
| XM_005249578.1:c.877_880del | XP_005249635.1:p.Val293ProfsTer6 | |
| XM_005249578.3:c.877_880del | XP_005249635.1:p.Val293ProfsTer6 | |
| XM_017011676.2:c.877_880del | XP_016867165.1:p.Val293ProfsTer6 | |
| XM_017011677.2:c.877_880del | XP_016867166.1:p.Val293ProfsTer6 | |
| XM_017011678.2:c.877_880del | XP_016867167.1:p.Val293ProfsTer6 | |
| NM_001005340.2:c.877_880del | NP_001005340.1:p.Val293ProfsTer6 | |
| NM_002510.3:c.877_880del MANE Select | NP_002501.1:p.Val293ProfsTer6 |