Linked Data
dbSNP Id:
rs750727529
ExAC:
16:14042188 GA / G
gnomAD v2:
16-14042188-GA-G
gnomAD v4:
16-13948331-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948335del , CM000678.2:g.13948335del | GRCh38 |
| NC_000016.9:g.14042192del , CM000678.1:g.14042192del | GRCh37 |
| NC_000016.8:g.13949693del | NCBI36 |
| NG_011442.1:g.33179del , LRG_463:g.33179del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2877del | ENSP00000507912.1:p.Lys962SerfsTer4 | |
| ENST00000683962.1:c.*2433del | ENSP00000506854.1:n.*2433del | |
| ENST00000311895.8:c.2739del MANE Select | ENSP00000310520.7:p.Lys916SerfsTer4 | |
| ENST00000311895.7:c.2739del | ENSP00000310520.7:p.Lys916SerfsTer4 | |
| ENST00000389138.7:n.2016del | ||
| NM_005236.2:c.2739del , LRG_463t1:c.2739del | NP_005227.1:p.Lys916SerfsTer4 | |
| XM_011522424.1:c.2877del | XP_011520726.1:p.Lys962SerfsTer4 | |
| XM_011522425.1:c.2196del | XP_011520727.1:p.Lys735SerfsTer4 | |
| XM_011522426.1:c.1950del | XP_011520728.1:p.Lys653SerfsTer4 | |
| XM_011522427.1:c.1389del | XP_011520729.1:p.Lys466SerfsTer4 | |
| XR_932805.1:n.2898del | ||
| XM_011522424.3:c.2877del | XP_011520726.1:p.Lys962SerfsTer4 | |
| XM_017023043.2:c.1950del | XP_016878532.1:p.Lys653SerfsTer4 | |
| NM_005236.3:c.2739del MANE Select | NP_005227.1:p.Lys916SerfsTer4 |