Linked Data
ClinVar Variation Id:
53455
dbSNP Id:
rs397508353
ExAC:
7:117232435 AG / A
gnomAD v2:
7-117232435-AG-A
gnomAD v4:
7-117592381-AG-A
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592382del , CM000669.2:g.117592382del | GRCh38 |
| NC_000007.13:g.117232436del , CM000669.1:g.117232436del | GRCh37 |
| NC_000007.12:g.117019672del | NCBI36 |
| NG_016465.4:g.131599del , LRG_663:g.131599del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2215del | ENSP00000497673.2:p.Val739TyrfsTer16 | |
| ENST00000647978.2:c.*1929del | ENSP00000497658.1:n.*1929del | |
| ENST00000649781.2:c.2032del | ENSP00000497203.1:p.Val678TyrfsTer16 | |
| ENST00000685018.2:c.2215del | ENSP00000510194.2:p.Val739TyrfsTer16 | |
| ENST00000687278.2:c.2215del | ENSP00000509593.2:p.Val739TyrfsTer16 | |
| ENST00000699585.1:c.2215del | ENSP00000514456.1:p.Val739TyrfsTer16 | |
| ENST00000699598.1:c.2215del | ENSP00000514467.1:p.Val739TyrfsTer16 | |
| ENST00000699599.1:c.2215del | ENSP00000514468.1:p.Val739TyrfsTer16 | |
| ENST00000699600.1:c.2215del | ENSP00000514469.1:p.Val739TyrfsTer16 | |
| ENST00000699601.1:c.*515del | ENSP00000514470.1:n.*515del | |
| ENST00000699602.1:c.2215del | ENSP00000514471.1:p.Val739TyrfsTer16 | |
| ENST00000699604.1:c.*2039del | ENSP00000514472.1:n.*2039del | |
| ENST00000699605.1:c.1789del | ENSP00000514473.1:p.Val597TyrfsTer16 | |
| ENST00000003084.11:c.2215del MANE Select | ENSP00000003084.6:p.Val739TyrfsTer16 | |
| ENST00000647978.1:c.*1929del | ENSP00000497658.1:n.*1929del | |
| ENST00000648260.1:c.1402-10444del | ENSP00000497957.1:n.1402-10444del | |
| ENST00000649406.1:c.2032del | ENSP00000497965.1:p.Val678TyrfsTer16 | |
| ENST00000649781.1:c.2032del | ENSP00000497203.1:p.Val678TyrfsTer16 | |
| ENST00000003084.10:c.2215del | ENSP00000003084.6:p.Val739TyrfsTer16 | |
| ENST00000426809.5:c.2125del | ENSP00000389119.1:p.Val709TyrfsTer16 | |
| NM_000492.3:c.2215del , LRG_663t1:c.2215del | NP_000483.3:p.Val739TyrfsTer16 | |
| XM_011515751.1:c.2305del | XP_011514053.1:p.Val769TyrfsTer16 | |
| XM_011515752.1:c.2305del | XP_011514054.1:p.Val769TyrfsTer16 | |
| XM_011515753.1:c.1972del | XP_011514055.1:p.Val658TyrfsTer16 | |
| XM_011515754.1:c.1972del | XP_011514056.1:p.Val658TyrfsTer16 | |
| NM_000492.4:c.2215del MANE Select | NP_000483.3:p.Val739TyrfsTer16 |