Linked Data
dbSNP Id:
rs1456863869
gnomAD v2:
17-40939527-CT-C
gnomAD v3:
17-42787509-CT-C
gnomAD v4:
17-42787509-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42787513del , CM000679.2:g.42787513del | GRCh38 |
| NC_000017.10:g.40939531del , CM000679.1:g.40939531del | GRCh37 |
| NC_000017.9:g.38193057del | NCBI36 |
| NG_016227.1:g.11883del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246914.10:c.1712del MANE Select | ENSP00000246914.4:p.Phe571SerfsTer? | |
| ENST00000246914.9:c.1712del | ENSP00000246914.4:p.Phe571SerfsTer? | |
| ENST00000587705.5:n.392del | ||
| ENST00000591448.5:c.*213del | ENSP00000467088.1:n.*213del | |
| ENST00000592072.1:n.392del | ||
| NM_032387.4:c.1712del | NP_115763.2:p.Phe571SerfsTer? | |
| XM_005257595.3:c.1712del | XP_005257652.1:p.Phe571SerfsTer? | |
| XM_005257596.2:c.1712del | XP_005257653.1:p.Phe571SerfsTer? | |
| XM_005257597.3:c.1712del | XP_005257654.1:p.Phe571SerfsTer? | |
| XM_006722020.2:c.1712del | XP_006722083.1:p.Phe571SerfsTer? | |
| XM_006722021.1:c.704del | XP_006722084.1:p.Phe235SerfsTer? | |
| XM_006722022.1:c.704del | XP_006722085.1:p.Phe235SerfsTer? | |
| XM_011525132.1:c.1712del | XP_011523434.1:p.Phe571SerfsTer? | |
| XM_011525133.1:c.1712del | XP_011523435.1:p.Phe571SerfsTer? | |
| XM_011525134.1:c.1712del | XP_011523436.1:p.Phe571SerfsTer? | |
| XM_011525135.1:c.1712del | XP_011523437.1:p.Phe571SerfsTer? | |
| NM_001321299.1:c.704del | NP_001308228.1:p.Phe235SerfsTer? | |
| XM_017024962.1:c.1712del | XP_016880451.1:p.Phe571SerfsTer? | |
| XM_017024966.1:c.704del | XP_016880455.1:p.Phe235SerfsTer? | |
| NM_032387.5:c.1712del MANE Select | NP_115763.2:p.Phe571SerfsTer? | |
| NM_001321299.2:c.704del | NP_001308228.1:p.Phe235SerfsTer? |