Linked Data
ClinVar Variation Id:
203459
dbSNP Id:
rs794729672
ExAC:
17:42426617 G / GC
gnomAD v2:
17-42426617-G-GC
gnomAD v4:
17-44349249-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44349251dup , CM000679.2:g.44349251dup | GRCh38 |
| NC_000017.10:g.42426619dup , CM000679.1:g.42426619dup | GRCh37 |
| NC_000017.9:g.39782145dup | NCBI36 |
| NG_007886.1:g.9129dup , LRG_661:g.9129dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000053867.8:c.87dup MANE Select | ENSP00000053867.2:p.Cys30LeufsTer? | |
| ENST00000639447.1:c.87dup | ENSP00000492014.1:p.Cys30LeufsTer? | |
| ENST00000053867.7:c.87dup | ENSP00000053867.2:p.Cys30LeufsTer? | |
| ENST00000585512.5:c.87dup | ENSP00000467745.1:p.Cys30LeufsTer? | |
| ENST00000586782.5:c.87dup | ENSP00000468318.1:p.Cys30LeufsTer? | |
| ENST00000587109.5:c.87dup | ENSP00000466271.1:p.Cys30LeufsTer? | |
| ENST00000587387.5:c.87dup | ENSP00000467431.1:p.Cys30LeufsTer? | |
| ENST00000587518.5:c.87dup | ENSP00000465518.1:p.Cys30LeufsTer? | |
| ENST00000587958.1:n.123dup | ||
| ENST00000588143.5:c.87dup | ENSP00000465375.1:p.Cys30LeufsTer? | |
| ENST00000588170.5:n.183dup | ||
| ENST00000588237.5:c.87dup | ENSP00000466611.1:p.Cys30LeufsTer? | |
| ENST00000589265.5:c.87dup | ENSP00000467616.1:p.Cys30LeufsTer? | |
| ENST00000589536.5:c.87dup | ENSP00000466956.1:p.Cys30LeufsTer? | |
| ENST00000591740.5:c.87dup | ENSP00000467022.1:p.Cys30LeufsTer? | |
| ENST00000592323.5:n.127dup | ||
| ENST00000592783.5:c.87dup | ENSP00000467870.1:p.Cys30LeufsTer? | |
| ENST00000593167.5:c.87dup | ENSP00000466405.1:p.Cys30LeufsTer? | |
| NM_002087.3:c.87dup | NP_002078.1:p.Cys30LeufsTer? | |
| XM_005257253.1:c.87dup | XP_005257310.1:p.Cys30LeufsTer? | |
| XM_024450730.1:c.87dup | XP_024306498.1:p.Cys30LeufsTer? | |
| NM_002087.4:c.87dup MANE Select | NP_002078.1:p.Cys30LeufsTer? |