Linked Data
ClinVar Variation Id:
2126079
ClinVar RCV Id:
RCV003043941
dbSNP Id:
rs536709656
ExAC:
17:2569389 CTAAG / C
gnomAD v3:
17-2666095-CTAAG-C
gnomAD v4:
17-2666095-CTAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2666097_2666100del , CM000679.2:g.2666097_2666100del | GRCh38 |
| NC_000017.10:g.2569391_2569394del , CM000679.1:g.2569391_2569394del | GRCh37 |
| NC_000017.9:g.2516141_2516144del | NCBI36 |
| NG_009799.1:g.77469_77472del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.192+7_192+10del MANE Select | ENSP00000380378.4:n.192+7_192+10del | |
| ENST00000674608.1:c.246+7_246+10del | ENSP00000501976.1:n.246+7_246+10del | |
| ENST00000674717.1:c.-3-895_-3-892del | ENSP00000501931.1:n.-3-895_-3-892del | |
| ENST00000675202.1:c.192+7_192+10del | ENSP00000502843.1:n.192+7_192+10del | |
| ENST00000675331.1:c.192+7_192+10del | ENSP00000502031.1:n.192+7_192+10del | |
| ENST00000675390.1:c.192+7_192+10del | ENSP00000501969.1:n.192+7_192+10del | |
| ENST00000675430.1:n.419+7_419+10del | ||
| ENST00000675621.1:c.192+7_192+10del | ENSP00000502117.1:n.192+7_192+10del | |
| ENST00000675764.1:c.*146+7_*146+10del | ENSP00000502242.1:n.*146+7_*146+10del | |
| ENST00000676077.1:c.-4+7_-4+10del | ENSP00000502507.1:n.-4+7_-4+10del | |
| ENST00000676098.1:c.192+7_192+10del | ENSP00000502735.1:n.192+7_192+10del | |
| ENST00000676188.1:c.192+7_192+10del | ENSP00000502577.1:n.192+7_192+10del | |
| ENST00000676201.1:n.346+7_346+10del | ||
| ENST00000676353.1:c.-4+7_-4+10del | ENSP00000502737.1:n.-4+7_-4+10del | |
| ENST00000676456.1:n.297+7_297+10del | ||
| ENST00000397195.9:c.192+7_192+10del | ENSP00000380378.4:n.192+7_192+10del | |
| ENST00000570400.1:c.*62+7_*62+10del | ENSP00000460258.1:n.*62+7_*62+10del | |
| ENST00000572915.6:n.273-895_273-892del | ||
| ENST00000574816.5:n.31-10217_31-10214del | ||
| ENST00000576586.5:c.192+7_192+10del | ENSP00000461087.1:n.192+7_192+10del | |
| ENST00000609078.1:n.151+7_151+10del | ||
| NM_000430.3:c.192+7_192+10del | NP_000421.1:n.192+7_192+10del | |
| XM_011523901.1:c.246+7_246+10del | XP_011522203.1:n.246+7_246+10del | |
| XM_011523902.1:c.246+7_246+10del | XP_011522204.1:n.246+7_246+10del | |
| XM_011523903.1:c.246+7_246+10del | XP_011522205.1:n.246+7_246+10del | |
| XM_011523904.1:c.246+7_246+10del | XP_011522206.1:n.246+7_246+10del | |
| XM_011523901.2:c.246+7_246+10del | XP_011522203.1:n.246+7_246+10del | |
| XM_011523902.3:c.246+7_246+10del | XP_011522204.1:n.246+7_246+10del | |
| XM_011523903.2:c.246+7_246+10del | XP_011522205.1:n.246+7_246+10del | |
| XM_017024701.1:c.192+7_192+10del | XP_016880190.1:n.192+7_192+10del | |
| XM_017024702.2:c.-4+7_-4+10del | XP_016880191.1:n.-4+7_-4+10del | |
| NM_000430.4:c.192+7_192+10del MANE Select | NP_000421.1:n.192+7_192+10del |