Linked Data
dbSNP Id:
rs763824426
ExAC:
17:16221268 CA / C
gnomAD v2:
17-16221268-CA-C
gnomAD v3:
17-16317954-CA-C
gnomAD v4:
17-16317954-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16317955del , CM000679.2:g.16317955del | GRCh38 |
| NC_000017.10:g.16221269del , CM000679.1:g.16221269del | GRCh37 |
| NC_000017.9:g.16161994del | NCBI36 |
| NG_032651.1:g.105761del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225609.10:c.660+47del MANE Select | ENSP00000225609.5:n.660+47del | |
| ENST00000225609.9:c.660+47del | ENSP00000225609.5:n.660+47del | |
| ENST00000395844.8:c.628+47del | ENSP00000379185.3:n.628+47del | |
| ENST00000477745.5:n.658+47del | ||
| ENST00000488375.2:n.518+47del | ||
| ENST00000581006.5:c.426+17977del | ENSP00000462432.1:n.426+17977del | |
| ENST00000596678.2:c.202+47del | ENSP00000470064.2:n.202+47del | |
| ENST00000613719.1:n.987+267del | ||
| NM_004278.3:c.660+47del | NP_004269.1:n.660+47del | |
| XR_243571.2:n.1658+47del | ||
| XM_017025349.1:c.*824+47del | XP_016880838.1:n.*824+47del | |
| XM_017025350.1:c.*824+47del | XP_016880839.1:n.*824+47del | |
| XM_017025352.1:c.660+47del | XP_016880841.1:n.660+47del | |
| XM_017025353.1:c.660+47del | XP_016880842.1:n.660+47del | |
| XM_017025354.1:c.628+47del | XP_016880843.1:n.628+47del | |
| XM_017025355.1:c.628+47del | XP_016880844.1:n.628+47del | |
| XM_017025356.1:c.*1137+47del | XP_016880845.1:n.*1137+47del | |
| NM_004278.4:c.660+47del MANE Select | NP_004269.1:n.660+47del |