Linked Data
ClinVar Variation Id:
455767
dbSNP Id:
rs797045156
gnomAD v4:
7-117592628-AGT-A
MyVariant Identifiers:
chr7:g.117232684_117232685del (hg19)
chr7:g.117232683_117232684del (hg19)
chr7:g.117592630_117592631del (hg38)
chr7:g.117592629_117592630del (hg38)
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592630_117592631del , CM000669.2:g.117592630_117592631del | GRCh38 |
| NC_000007.13:g.117232684_117232685del , CM000669.1:g.117232684_117232685del | GRCh37 |
| NC_000007.12:g.117019920_117019921del | NCBI36 |
| NG_016465.4:g.131847_131848del , LRG_663:g.131847_131848del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2463_2464del | ENSP00000497673.2:p.Ser821ArgfsTer4 | |
| ENST00000647978.2:c.*2177_*2178del | ENSP00000497658.1:n.*2177_*2178del | |
| ENST00000649781.2:c.2280_2281del | ENSP00000497203.1:p.Ser760ArgfsTer4 | |
| ENST00000685018.2:c.2463_2464del | ENSP00000510194.2:p.Ser821ArgfsTer4 | |
| ENST00000687278.2:c.2463_2464del | ENSP00000509593.2:p.Ser821ArgfsTer4 | |
| ENST00000699585.1:c.2463_2464del | ENSP00000514456.1:p.Ser821ArgfsTer4 | |
| ENST00000699598.1:c.2463_2464del | ENSP00000514467.1:p.Ser821ArgfsTer4 | |
| ENST00000699599.1:c.2463_2464del | ENSP00000514468.1:p.Ser821ArgfsTer4 | |
| ENST00000699600.1:c.2463_2464del | ENSP00000514469.1:p.Ser821ArgfsTer4 | |
| ENST00000699601.1:c.*763_*764del | ENSP00000514470.1:n.*763_*764del | |
| ENST00000699602.1:c.2463_2464del | ENSP00000514471.1:p.Ser821ArgfsTer4 | |
| ENST00000699604.1:c.*2287_*2288del | ENSP00000514472.1:n.*2287_*2288del | |
| ENST00000699605.1:c.2037_2038del | ENSP00000514473.1:p.Ser679ArgfsTer4 | |
| ENST00000687278.1:c.54_55del | ENSP00000509593.1:p.Ser18ArgfsTer4 | |
| ENST00000003084.11:c.2463_2464del MANE Select | ENSP00000003084.6:p.Ser821ArgfsTer4 | |
| ENST00000647720.1:c.113_114del | ||
| ENST00000647978.1:c.*2177_*2178del | ENSP00000497658.1:n.*2177_*2178del | |
| ENST00000648260.1:c.1402-10196_1402-10195del | ENSP00000497957.1:n.1402-10196_1402-10195... | |
| ENST00000649406.1:c.2280_2281del | ENSP00000497965.1:p.Ser760ArgfsTer4 | |
| ENST00000649781.1:c.2280_2281del | ENSP00000497203.1:p.Ser760ArgfsTer4 | |
| ENST00000003084.10:c.2463_2464del | ENSP00000003084.6:p.Ser821ArgfsTer4 | |
| ENST00000426809.5:c.2373_2374del | ENSP00000389119.1:p.Ser791ArgfsTer4 | |
| NM_000492.3:c.2463_2464del , LRG_663t1:c.2463_2464del | NP_000483.3:p.Ser821ArgfsTer4 | |
| XM_011515751.1:c.2553_2554del | XP_011514053.1:p.Ser851ArgfsTer4 | |
| XM_011515752.1:c.2553_2554del | XP_011514054.1:p.Ser851ArgfsTer4 | |
| XM_011515753.1:c.2220_2221del | XP_011514055.1:p.Ser740ArgfsTer4 | |
| XM_011515754.1:c.2220_2221del | XP_011514056.1:p.Ser740ArgfsTer4 | |
| NM_000492.4:c.2463_2464del MANE Select | NP_000483.3:p.Ser821ArgfsTer4 |