Linked Data
ClinVar Variation Id:
447076
dbSNP Id:
rs766116662
gnomAD v2:
7-143027929-CTTTGCAGCCACG-C
gnomAD v4:
7-143330836-CTTTGCAGCCACG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330839_143330850del , CM000669.2:g.143330839_143330850del | GRCh38 |
| NC_000007.13:g.143027932_143027943del , CM000669.1:g.143027932_143027943del | GRCh37 |
| NC_000007.12:g.142738054_142738065del | NCBI36 |
| NG_009815.1:g.19714_19725del | |
| NG_009815.2:g.19714_19725del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.921_932del | ENSP00000498052.2:p.Ala308_Phe311del | |
| ENST00000343257.7:c.921_932del MANE Select | ENSP00000339867.2:p.Ala308_Phe311del | |
| ENST00000432192.6:c.745_756del | ||
| ENST00000455478.6:c.509_520del | ENSP00000400027.2:n.509_520del | |
| ENST00000650516.1:c.921_932del | ENSP00000498052.1:p.Ala308_Phe311del | |
| ENST00000343257.6:c.921_932del | ENSP00000339867.2:p.Ala308_Phe311del | |
| ENST00000432192.5:c.435_446del | ||
| ENST00000455478.5:c.513_524del | ||
| ENST00000495612.1:n.222_233del | ||
| NM_000083.2:c.921_932del | NP_000074.2:p.Ala308_Phe311del | |
| NR_046453.1:n.1011_1022del | ||
| XM_011515781.1:c.921_932del | XP_011514083.1:p.Ala308_Phe311del | |
| XM_017011739.1:c.471_482del | XP_016867228.1:p.Ala158_Phe161del | |
| XM_017011740.1:c.471_482del | XP_016867229.1:p.Ala158_Phe161del | |
| NM_000083.3:c.921_932del MANE Select | NP_000074.3:p.Ala308_Phe311del | |
| NR_046453.2:n.1026_1037del |