Linked Data
dbSNP Id:
rs1196603210
gnomAD v2:
7-117243576-TG-T
gnomAD v3:
7-117603522-TG-T
gnomAD v4:
7-117603522-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603523del , CM000669.2:g.117603523del | GRCh38 |
| NC_000007.13:g.117243577del , CM000669.1:g.117243577del | GRCh37 |
| NC_000007.12:g.117030813del | NCBI36 |
| NG_016465.4:g.142740del , LRG_663:g.142740del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2658-9del | ENSP00000497673.2:n.2658-9del | |
| ENST00000647978.2:c.*2372-9del | ENSP00000497658.1:n.*2372-9del | |
| ENST00000649781.2:c.2475-9del | ENSP00000497203.1:n.2475-9del | |
| ENST00000685018.2:c.2658-9del | ENSP00000510194.2:n.2658-9del | |
| ENST00000687278.2:c.2658-9del | ENSP00000509593.2:n.2658-9del | |
| ENST00000699585.1:c.2658-9del | ENSP00000514456.1:n.2658-9del | |
| ENST00000699598.1:c.2658-9del | ENSP00000514467.1:n.2658-9del | |
| ENST00000699599.1:c.2658-9del | ENSP00000514468.1:n.2658-9del | |
| ENST00000699600.1:c.2658-9del | ENSP00000514469.1:n.2658-9del | |
| ENST00000699601.1:c.*958-9del | ENSP00000514470.1:n.*958-9del | |
| ENST00000699602.1:c.2658-9del | ENSP00000514471.1:n.2658-9del | |
| ENST00000699604.1:c.*2482-9del | ENSP00000514472.1:n.*2482-9del | |
| ENST00000699605.1:c.2232-9del | ENSP00000514473.1:n.2232-9del | |
| ENST00000687278.1:c.249-9del | ENSP00000509593.1:n.249-9del | |
| ENST00000003084.11:c.2658-9del MANE Select | ENSP00000003084.6:n.2658-9del | |
| ENST00000647720.1:c.308-9del | ||
| ENST00000648260.1:c.1440-9del | ENSP00000497957.1:n.1440-9del | |
| ENST00000649406.1:c.2475-9del | ENSP00000497965.1:n.2475-9del | |
| ENST00000649781.1:c.2475-9del | ENSP00000497203.1:n.2475-9del | |
| ENST00000003084.10:c.2658-9del | ENSP00000003084.6:n.2658-9del | |
| ENST00000426809.5:c.2568-9del | ENSP00000389119.1:n.2568-9del | |
| NM_000492.3:c.2658-9del , LRG_663t1:c.2658-9del | NP_000483.3:n.2658-9del | |
| XM_011515751.1:c.2748-9del | XP_011514053.1:n.2748-9del | |
| XM_011515752.1:c.2748-9del | XP_011514054.1:n.2748-9del | |
| XM_011515753.1:c.2415-9del | XP_011514055.1:n.2415-9del | |
| XM_011515754.1:c.2415-9del | XP_011514056.1:n.2415-9del | |
| NM_000492.4:c.2658-9del MANE Select | NP_000483.3:n.2658-9del |