Linked Data
ClinVar Variation Id:
217621
dbSNP Id:
rs771454167
ExAC:
12:88456548 AC / A
gnomAD v2:
12-88456548-AC-A
gnomAD v3:
12-88062771-AC-A
gnomAD v4:
12-88062771-AC-A
MyVariant Identifiers:
chr12:g.88456549del (hg19)
chr12:g.88456549_88456555delinsTTGATT (hg19)
chr12:g.88062772del (hg38)
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88062772del , CM000674.2:g.88062772del | GRCh38 |
| NC_000012.11:g.88456549del , CM000674.1:g.88456549del | GRCh37 |
| NC_000012.10:g.86980680del | NCBI36 |
| NG_008417.1:g.84445del | |
| NG_008417.2:g.84445del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309041.12:c.6286del | ENSP00000308021.8:p.Val2096SerfsTer4 | |
| ENST00000547691.8:c.3561del | ||
| ENST00000552810.6:c.6277del MANE Select | ENSP00000448012.1:p.Val2093SerfsTer4 | |
| ENST00000672414.2:c.*4448del | ENSP00000500729.1:n.*4448del | |
| ENST00000672647.1:n.4637del | ||
| ENST00000673058.2:c.6277del | ENSP00000500665.2:p.Val2093SerfsTer4 | |
| ENST00000674889.1:n.3230del | ||
| ENST00000674971.1:c.6277del | ENSP00000502194.1:p.Val2093SerfsTer4 | |
| ENST00000675230.1:c.6256del | ENSP00000502503.1:p.Val2086SerfsTer4 | |
| ENST00000675408.1:c.6277del | ENSP00000502298.1:p.Val2093SerfsTer4 | |
| ENST00000675476.1:c.7138del | ENSP00000502161.1:p.Val2380SerfsTer4 | |
| ENST00000675628.1:n.6504del | ||
| ENST00000675794.1:c.*4448del | ENSP00000502841.1:n.*4448del | |
| ENST00000675833.1:c.7045del | ENSP00000502559.1:p.Val2349SerfsTer4 | |
| ENST00000675894.1:n.2582del | ||
| ENST00000676074.1:c.6277del | ENSP00000502079.1:p.Val2093SerfsTer4 | |
| ENST00000676181.1:n.5205del | ||
| ENST00000676190.1:n.716del | ||
| ENST00000676363.1:n.12003del | ||
| ENST00000309041.11:c.6283del | ENSP00000308021.7:p.Val2095SerfsTer4 | |
| ENST00000547691.6:c.3457del | ENSP00000446905.1:p.Val1153SerfsTer4 | |
| ENST00000552810.5:c.6277del | ENSP00000448012.1:p.Val2093SerfsTer4 | |
| NM_025114.3:c.6277del | NP_079390.3:p.Val2093SerfsTer4 | |
| XM_011538756.1:c.7147del | XP_011537058.1:p.Val2383SerfsTer4 | |
| XM_011538757.1:c.7147del | XP_011537059.1:p.Val2383SerfsTer4 | |
| XM_011538758.1:c.7144del | XP_011537060.1:p.Val2382SerfsTer4 | |
| XM_011538759.1:c.7138del | XP_011537061.1:p.Val2380SerfsTer4 | |
| XM_011538760.1:c.7147del | XP_011537062.1:p.Val2383SerfsTer4 | |
| XM_011538761.1:c.7147del | XP_011537063.1:p.Val2383SerfsTer4 | |
| XM_011538762.1:c.6379del | XP_011537064.1:p.Val2127SerfsTer4 | |
| XM_011538763.1:c.6286del | XP_011537065.1:p.Val2096SerfsTer4 | |
| XM_011538766.1:c.5608del | XP_011537068.1:p.Val1870SerfsTer4 | |
| XR_945163.1:n.967+5752del | ||
| XM_011538756.3:c.7147del | XP_011537058.1:p.Val2383SerfsTer4 | |
| XM_011538757.3:c.7147del | XP_011537059.1:p.Val2383SerfsTer4 | |
| XM_011538758.3:c.7144del | XP_011537060.1:p.Val2382SerfsTer4 | |
| XM_011538759.2:c.7138del | XP_011537061.1:p.Val2380SerfsTer4 | |
| XM_011538760.2:c.7147del | XP_011537062.1:p.Val2383SerfsTer4 | |
| XM_011538761.2:c.7147del | XP_011537063.1:p.Val2383SerfsTer4 | |
| XM_011538762.3:c.6379del | XP_011537064.1:p.Val2127SerfsTer4 | |
| XM_011538763.3:c.6286del | XP_011537065.1:p.Val2096SerfsTer4 | |
| XM_011538766.3:c.5608del | XP_011537068.1:p.Val1870SerfsTer4 | |
| XM_017019980.2:c.7138del | XP_016875469.1:p.Val2380SerfsTer4 | |
| XM_017019981.2:c.7138del | XP_016875470.1:p.Val2380SerfsTer4 | |
| XM_017019982.1:c.7147del | XP_016875471.1:p.Val2383SerfsTer4 | |
| XM_017019983.2:c.6265del | XP_016875472.1:p.Val2089SerfsTer4 | |
| XR_001748869.1:n.7482del | ||
| XR_001748870.2:n.7482del | ||
| NM_025114.4:c.6277del MANE Select | NP_079390.3:p.Val2093SerfsTer4 |