Linked Data
ClinVar Variation Id:
21180
dbSNP Id:
rs113994198
ExAC:
17:2569346 GA / G
gnomAD v2:
17-2569346-GA-G
gnomAD v4:
17-2666052-GA-G
MyVariant Identifiers:
chr17:g.2569354del (hg19)
chr17:g.2569347del (hg19)
chr17:g.2666060del (hg38)
chr17:g.2666054del (hg38)
chr17:g.2666053del (hg38)
PubMed:
PMID:20301752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2666060del , CM000679.2:g.2666060del | GRCh38 |
| NC_000017.10:g.2569354del , CM000679.1:g.2569354del | GRCh37 |
| NC_000017.9:g.2516104del | NCBI36 |
| NG_009799.1:g.77432del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.162del MANE Select | ENSP00000380378.4:p.Lys54AsnfsTer15 | |
| ENST00000674608.1:c.216del | ENSP00000501976.1:p.Lys72AsnfsTer15 | |
| ENST00000674717.1:c.-3-932del | ENSP00000501931.1:n.-3-932del | |
| ENST00000675202.1:c.162del | ENSP00000502843.1:p.Lys54AsnfsTer15 | |
| ENST00000675331.1:c.162del | ENSP00000502031.1:p.Lys54AsnfsTer15 | |
| ENST00000675390.1:c.162del | ENSP00000501969.1:p.Lys54AsnfsTer15 | |
| ENST00000675430.1:n.389del | ||
| ENST00000675621.1:c.162del | ENSP00000502117.1:p.Lys54AsnfsTer15 | |
| ENST00000675764.1:c.*116del | ENSP00000502242.1:n.*116del | |
| ENST00000676077.1:c.-34del | ENSP00000502507.1:n.-34del | |
| ENST00000676098.1:c.162del | ENSP00000502735.1:p.Lys54AsnfsTer15 | |
| ENST00000676188.1:c.162del | ENSP00000502577.1:p.Lys54AsnfsTer15 | |
| ENST00000676201.1:n.316del | ||
| ENST00000676353.1:c.-34del | ENSP00000502737.1:n.-34del | |
| ENST00000676456.1:n.267del | ||
| ENST00000397195.9:c.162del | ENSP00000380378.4:p.Lys54AsnfsTer15 | |
| ENST00000570400.1:c.*32del | ENSP00000460258.1:n.*32del | |
| ENST00000572915.6:n.273-932del | ||
| ENST00000574816.5:n.31-10254del | ||
| ENST00000575477.5:n.664del | ||
| ENST00000576586.5:c.162del | ENSP00000461087.1:p.Lys54AsnfsTer15 | |
| ENST00000609078.1:n.121del | ||
| NM_000430.3:c.162del | NP_000421.1:p.Lys54AsnfsTer15 | |
| XM_011523901.1:c.216del | XP_011522203.1:p.Lys72AsnfsTer15 | |
| XM_011523902.1:c.216del | XP_011522204.1:p.Lys72AsnfsTer15 | |
| XM_011523903.1:c.216del | XP_011522205.1:p.Lys72AsnfsTer15 | |
| XM_011523904.1:c.216del | XP_011522206.1:p.Lys72AsnfsTer15 | |
| XM_011523901.2:c.216del | XP_011522203.1:p.Lys72AsnfsTer15 | |
| XM_011523902.3:c.216del | XP_011522204.1:p.Lys72AsnfsTer15 | |
| XM_011523903.2:c.216del | XP_011522205.1:p.Lys72AsnfsTer15 | |
| XM_017024701.1:c.162del | XP_016880190.1:p.Lys54AsnfsTer15 | |
| XM_017024702.2:c.-34del | XP_016880191.1:n.-34del | |
| NM_000430.4:c.162del MANE Select | NP_000421.1:p.Lys54AsnfsTer15 |