Linked Data
dbSNP Id:
rs756959430
ExAC:
16:1412288 AC / A
gnomAD v2:
16-1412288-AC-A
gnomAD v4:
16-1362287-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362293del , CM000678.2:g.1362293del | GRCh38 |
| NC_000016.9:g.1412294del , CM000678.1:g.1412294del | GRCh37 |
| NC_000016.8:g.1352295del | NCBI36 |
| NG_016985.1:g.15395del | |
| NG_033129.1:g.57417del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.598del | ||
| ENST00000529110.2:c.583del | ENSP00000435349.2:p.Leu195SerfsTer9 | |
| ENST00000529957.6:n.557del | ||
| ENST00000683366.1:c.*231del | ENSP00000507283.1:n.*231del | |
| ENST00000683887.1:c.547del | ENSP00000506886.1:p.Leu183SerfsTer9 | |
| ENST00000684100.1:n.493del | ||
| ENST00000684126.1:n.557del | ||
| ENST00000684688.1:n.1124del | ||
| ENST00000204679.9:c.499del MANE Select | ENSP00000204679.4:p.Leu167SerfsTer9 | |
| ENST00000204679.8:c.499del | ENSP00000204679.4:p.Leu167SerfsTer9 | |
| ENST00000527076.1:n.1515del | ||
| ENST00000527168.5:n.535del | ||
| ENST00000529957.5:n.598del | ||
| NM_032520.4:c.499del | NP_115909.1:p.Leu167SerfsTer9 | |
| XM_017023782.1:c.547del | XP_016879271.1:p.Leu183SerfsTer9 | |
| XM_017023783.1:c.139del | XP_016879272.1:p.Leu47SerfsTer9 | |
| NM_032520.5:c.499del MANE Select | NP_115909.1:p.Leu167SerfsTer9 |