Linked Data
ClinVar Variation Id:
56740
dbSNP Id:
rs386834159
ExAC:
12:88465562 CA / C
gnomAD v2:
12-88465562-CA-C
gnomAD v4:
12-88071785-CA-C
PubMed:
PMID:19466712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88071790del , CM000674.2:g.88071790del | GRCh38 |
| NC_000012.11:g.88465567del , CM000674.1:g.88465567del | GRCh37 |
| NC_000012.10:g.86989698del | NCBI36 |
| NG_008417.1:g.75431del | |
| NG_008417.2:g.75431del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.5850del | ENSP00000308021.8:p.Phe1950LeufsTer15 | |
| ENST00000547691.8:c.3134del | ||
| ENST00000552810.6:c.5850del MANE Select | ENSP00000448012.1:p.Phe1950LeufsTer15 | |
| ENST00000672414.2:c.*4021del | ENSP00000500729.1:n.*4021del | |
| ENST00000672647.1:n.4210del | ||
| ENST00000673058.2:c.5850del | ENSP00000500665.2:p.Phe1950LeufsTer15 | |
| ENST00000674971.1:c.5850del | ENSP00000502194.1:p.Phe1950LeufsTer15 | |
| ENST00000675230.1:c.5829del | ENSP00000502503.1:p.Phe1943LeufsTer15 | |
| ENST00000675408.1:c.5850del | ENSP00000502298.1:p.Phe1950LeufsTer15 | |
| ENST00000675476.1:c.6711del | ENSP00000502161.1:p.Phe2237LeufsTer15 | |
| ENST00000675628.1:n.6077del | ||
| ENST00000675794.1:c.*4021del | ENSP00000502841.1:n.*4021del | |
| ENST00000675833.1:c.6618del | ENSP00000502559.1:p.Phe2206LeufsTer15 | |
| ENST00000675894.1:n.2155del | ||
| ENST00000676074.1:c.5850del | ENSP00000502079.1:p.Phe1950LeufsTer15 | |
| ENST00000676181.1:n.4778del | ||
| ENST00000676363.1:n.11576del | ||
| ENST00000676448.1:c.*3763del | ENSP00000501987.1:n.*3763del | |
| ENST00000309041.11:c.5856del | ENSP00000308021.7:p.Phe1952LeufsTer15 | |
| ENST00000547691.6:c.3030del | ENSP00000446905.1:p.Phe1010LeufsTer15 | |
| ENST00000552810.5:c.5850del | ENSP00000448012.1:p.Phe1950LeufsTer15 | |
| NM_025114.3:c.5850del | NP_079390.3:p.Phe1950LeufsTer15 | |
| XM_011538756.1:c.6711del | XP_011537058.1:p.Phe2237LeufsTer15 | |
| XM_011538757.1:c.6711del | XP_011537059.1:p.Phe2237LeufsTer15 | |
| XM_011538758.1:c.6711del | XP_011537060.1:p.Phe2237LeufsTer15 | |
| XM_011538759.1:c.6711del | XP_011537061.1:p.Phe2237LeufsTer15 | |
| XM_011538760.1:c.6711del | XP_011537062.1:p.Phe2237LeufsTer15 | |
| XM_011538761.1:c.6711del | XP_011537063.1:p.Phe2237LeufsTer15 | |
| XM_011538762.1:c.5943del | XP_011537064.1:p.Phe1981LeufsTer15 | |
| XM_011538763.1:c.5850del | XP_011537065.1:p.Phe1950LeufsTer15 | |
| XM_011538764.1:c.6711del | XP_011537066.1:p.Phe2237LeufsTer15 | |
| XM_011538765.1:c.6711del | XP_011537067.1:p.Phe2237LeufsTer15 | |
| XM_011538766.1:c.5172del | XP_011537068.1:p.Phe1724LeufsTer15 | |
| XR_945163.1:n.968-10523del | ||
| XM_011538756.3:c.6711del | XP_011537058.1:p.Phe2237LeufsTer15 | |
| XM_011538757.3:c.6711del | XP_011537059.1:p.Phe2237LeufsTer15 | |
| XM_011538758.3:c.6711del | XP_011537060.1:p.Phe2237LeufsTer15 | |
| XM_011538759.2:c.6711del | XP_011537061.1:p.Phe2237LeufsTer15 | |
| XM_011538760.2:c.6711del | XP_011537062.1:p.Phe2237LeufsTer15 | |
| XM_011538761.2:c.6711del | XP_011537063.1:p.Phe2237LeufsTer15 | |
| XM_011538762.3:c.5943del | XP_011537064.1:p.Phe1981LeufsTer15 | |
| XM_011538763.3:c.5850del | XP_011537065.1:p.Phe1950LeufsTer15 | |
| XM_011538764.3:c.6711del | XP_011537066.1:p.Phe2237LeufsTer15 | |
| XM_011538765.3:c.6711del | XP_011537067.1:p.Phe2237LeufsTer15 | |
| XM_011538766.3:c.5172del | XP_011537068.1:p.Phe1724LeufsTer15 | |
| XM_017019980.2:c.6711del | XP_016875469.1:p.Phe2237LeufsTer15 | |
| XM_017019981.2:c.6711del | XP_016875470.1:p.Phe2237LeufsTer15 | |
| XM_017019982.1:c.6711del | XP_016875471.1:p.Phe2237LeufsTer15 | |
| XM_017019983.2:c.5829del | XP_016875472.1:p.Phe1943LeufsTer15 | |
| XR_001748869.1:n.7055del | ||
| XR_001748870.2:n.7055del | ||
| NM_025114.4:c.5850del MANE Select | NP_079390.3:p.Phe1950LeufsTer15 |