Linked Data
dbSNP Id:
rs5888096
ExAC:
7:143047599 T / TG
gnomAD v2:
7-143047599-T-TG
gnomAD v3:
7-143350506-T-TG
gnomAD v4:
7-143350506-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350510dup , CM000669.2:g.143350510dup | GRCh38 |
| NC_000007.13:g.143047603dup , CM000669.1:g.143047603dup | GRCh37 |
| NC_000007.12:g.142757725dup | NCBI36 |
| NG_009815.1:g.39385dup | |
| NG_009815.2:g.39385dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2508+34dup | ENSP00000498052.2:n.2508+34dup | |
| ENST00000343257.7:c.2508+34dup MANE Select | ENSP00000339867.2:n.2508+34dup | |
| ENST00000432192.6:c.2332+34dup | ||
| ENST00000343257.6:c.2508+34dup | ENSP00000339867.2:n.2508+34dup | |
| NM_000083.2:c.2508+34dup | NP_000074.2:n.2508+34dup | |
| NR_046453.1:n.2448+34dup | ||
| XM_011515781.1:c.2532+34dup | XP_011514083.1:n.2532+34dup | |
| XM_011515782.1:c.1254+34dup | XP_011514084.1:n.1254+34dup | |
| XM_011515782.2:c.1254+34dup | XP_011514084.1:n.1254+34dup | |
| XM_017011739.1:c.2082+34dup | XP_016867228.1:n.2082+34dup | |
| XM_017011740.1:c.2058+34dup | XP_016867229.1:n.2058+34dup | |
| NM_000083.3:c.2508+34dup MANE Select | NP_000074.3:n.2508+34dup | |
| NR_046453.2:n.2463+34dup |