Linked Data
ClinVar Variation Id:
53583
dbSNP Id:
rs397508447
ExAC:
7:117243802 AG / A
gnomAD v2:
7-117243802-AG-A
gnomAD v4:
7-117603748-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603749del , CM000669.2:g.117603749del | GRCh38 |
| NC_000007.13:g.117243803del , CM000669.1:g.117243803del | GRCh37 |
| NC_000007.12:g.117031039del | NCBI36 |
| NG_016465.4:g.142966del , LRG_663:g.142966del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2875del | ENSP00000497673.2:p.Ala959HisfsTer9 | |
| ENST00000647978.2:c.*2589del | ENSP00000497658.1:n.*2589del | |
| ENST00000649781.2:c.2692del | ENSP00000497203.1:p.Ala898HisfsTer9 | |
| ENST00000685018.2:c.2875del | ENSP00000510194.2:p.Ala959HisfsTer9 | |
| ENST00000687278.2:c.2875del | ENSP00000509593.2:p.Ala959HisfsTer9 | |
| ENST00000699585.1:c.2875del | ENSP00000514456.1:p.Ala959HisfsTer9 | |
| ENST00000699598.1:c.2875del | ENSP00000514467.1:p.Ala959HisfsTer9 | |
| ENST00000699599.1:c.2875del | ENSP00000514468.1:p.Ala959HisfsTer9 | |
| ENST00000699600.1:c.2875del | ENSP00000514469.1:p.Ala959HisfsTer9 | |
| ENST00000699601.1:c.*1175del | ENSP00000514470.1:n.*1175del | |
| ENST00000699602.1:c.2875del | ENSP00000514471.1:p.Ala959HisfsTer9 | |
| ENST00000699604.1:c.*2699del | ENSP00000514472.1:n.*2699del | |
| ENST00000699605.1:c.2449del | ENSP00000514473.1:p.Ala817HisfsTer9 | |
| ENST00000687278.1:c.466del | ENSP00000509593.1:p.Ala156HisfsTer9 | |
| ENST00000003084.11:c.2875del MANE Select | ENSP00000003084.6:p.Ala959HisfsTer9 | |
| ENST00000647720.1:c.525del | ||
| ENST00000648260.1:c.1657del | ENSP00000497957.1:p.Ala553HisfsTer9 | |
| ENST00000649406.1:c.2692del | ENSP00000497965.1:p.Ala898HisfsTer9 | |
| ENST00000649781.1:c.2692del | ENSP00000497203.1:p.Ala898HisfsTer9 | |
| ENST00000003084.10:c.2875del | ENSP00000003084.6:p.Ala959HisfsTer9 | |
| ENST00000426809.5:c.2785del | ENSP00000389119.1:p.Ala929HisfsTer9 | |
| NM_000492.3:c.2875del , LRG_663t1:c.2875del | NP_000483.3:p.Ala959HisfsTer9 | |
| XM_011515751.1:c.2965del | XP_011514053.1:p.Ala989HisfsTer9 | |
| XM_011515752.1:c.2965del | XP_011514054.1:p.Ala989HisfsTer9 | |
| XM_011515753.1:c.2632del | XP_011514055.1:p.Ala878HisfsTer9 | |
| XM_011515754.1:c.2632del | XP_011514056.1:p.Ala878HisfsTer9 | |
| NM_000492.4:c.2875del MANE Select | NP_000483.3:p.Ala959HisfsTer9 |