Linked Data
dbSNP Id:
rs368084123
gnomAD v2:
17-7357941-GT-G
gnomAD v3:
17-7454622-GT-G
gnomAD v4:
17-7454622-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454624del , CM000679.2:g.7454624del | GRCh38 |
| NC_000017.10:g.7357943del , CM000679.1:g.7357943del | GRCh37 |
| NC_000017.9:g.7298667del | NCBI36 |
| NG_008026.1:g.14538del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044+104del MANE Select | ENSP00000304290.2:n.1044+104del | |
| ENST00000306071.6:c.1044+104del | ENSP00000304290.2:n.1044+104del | |
| ENST00000536404.6:c.828+104del | ENSP00000439209.2:n.828+104del | |
| ENST00000570557.5:c.707+104del | ||
| ENST00000573209.1:n.1988+104del | ||
| ENST00000576360.1:c.681+104del | ENSP00000459092.1:n.681+104del | |
| NM_000747.2:c.1044+104del | NP_000738.2:n.1044+104del | |
| NM_000747.3:c.1044+104del MANE Select | NP_000738.2:n.1044+104del |