Linked Data
ClinVar Variation Id:
841124
ClinVar RCV Id:
RCV001043278
dbSNP Id:
rs748329158
ExAC:
7:143049051 TC / T
gnomAD v2:
7-143049051-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351960del , CM000669.2:g.143351960del | GRCh38 |
| NC_000007.13:g.143049053del , CM000669.1:g.143049053del | GRCh37 |
| NC_000007.12:g.142759175del | NCBI36 |
| NG_009815.1:g.40835del | |
| NG_009815.2:g.40835del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2962del | ENSP00000498052.2:p.Leu988PhefsTer? | |
| ENST00000343257.7:c.2962del MANE Select | ENSP00000339867.2:p.Leu988PhefsTer? | |
| ENST00000343257.6:c.2962del | ENSP00000339867.2:p.Leu988PhefsTer? | |
| NM_000083.2:c.2962del | NP_000074.2:p.Leu988PhefsTer? | |
| NR_046453.1:n.2902del | ||
| XM_011515781.1:c.2986del | XP_011514083.1:p.Leu996PhefsTer? | |
| XM_011515782.1:c.1708del | XP_011514084.1:p.Leu570PhefsTer? | |
| XM_011515782.2:c.1708del | XP_011514084.1:p.Leu570PhefsTer? | |
| XM_017011739.1:c.2536del | XP_016867228.1:p.Leu846PhefsTer? | |
| XM_017011740.1:c.2512del | XP_016867229.1:p.Leu838PhefsTer? | |
| NM_000083.3:c.2962del MANE Select | NP_000074.3:p.Leu988PhefsTer? | |
| NR_046453.2:n.2917del |