Linked Data
dbSNP Id:
rs573433155
ExAC:
17:27857407 AT / A
gnomAD v2:
17-27857407-AT-A
gnomAD v3:
17-29530389-AT-A
gnomAD v4:
17-29530389-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29530398del , CM000679.2:g.29530398del | GRCh38 |
| NC_000017.10:g.27857416del , CM000679.1:g.27857416del | GRCh37 |
| NC_000017.9:g.24881542del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.2149-9del MANE Select | ENSP00000261716.3:n.2149-9del | |
| ENST00000261716.7:c.2149-9del | ENSP00000261716.3:n.2149-9del | |
| ENST00000536202.1:c.1705-9del | ENSP00000438819.1:n.1705-9del | |
| ENST00000578653.1:n.233-9del | ||
| NM_020791.2:c.2149-9del | NP_065842.1:n.2149-9del | |
| NM_025142.1:c.1705-9del | NP_079418.1:n.1705-9del | |
| XM_011525060.1:c.2149-9del | XP_011523362.1:n.2149-9del | |
| XM_011525060.2:c.2149-9del | XP_011523362.1:n.2149-9del | |
| NM_020791.4:c.2149-9del MANE Select | NP_065842.1:n.2149-9del |