Linked Data
dbSNP Id:
rs752480683
ExAC:
7:117243687 TG / T
gnomAD v2:
7-117243687-TG-T
gnomAD v3:
7-117603633-TG-T
gnomAD v4:
7-117603633-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603636del , CM000669.2:g.117603636del | GRCh38 |
| NC_000007.13:g.117243690del , CM000669.1:g.117243690del | GRCh37 |
| NC_000007.12:g.117030926del | NCBI36 |
| NG_016465.4:g.142853del , LRG_663:g.142853del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2762del | ENSP00000497673.2:p.Gly921GlufsTer2 | |
| ENST00000647978.2:c.*2476del | ENSP00000497658.1:n.*2476del | |
| ENST00000649781.2:c.2579del | ENSP00000497203.1:p.Gly860GlufsTer2 | |
| ENST00000685018.2:c.2762del | ENSP00000510194.2:p.Gly921GlufsTer2 | |
| ENST00000687278.2:c.2762del | ENSP00000509593.2:p.Gly921GlufsTer2 | |
| ENST00000699585.1:c.2762del | ENSP00000514456.1:p.Gly921GlufsTer2 | |
| ENST00000699598.1:c.2762del | ENSP00000514467.1:p.Gly921GlufsTer2 | |
| ENST00000699599.1:c.2762del | ENSP00000514468.1:p.Gly921GlufsTer2 | |
| ENST00000699600.1:c.2762del | ENSP00000514469.1:p.Gly921GlufsTer2 | |
| ENST00000699601.1:c.*1062del | ENSP00000514470.1:n.*1062del | |
| ENST00000699602.1:c.2762del | ENSP00000514471.1:p.Gly921GlufsTer2 | |
| ENST00000699604.1:c.*2586del | ENSP00000514472.1:n.*2586del | |
| ENST00000699605.1:c.2336del | ENSP00000514473.1:p.Gly779GlufsTer2 | |
| ENST00000687278.1:c.353del | ENSP00000509593.1:p.Gly118GlufsTer2 | |
| ENST00000003084.11:c.2762del MANE Select | ENSP00000003084.6:p.Gly921GlufsTer2 | |
| ENST00000647720.1:c.412del | ||
| ENST00000648260.1:c.1544del | ENSP00000497957.1:p.Gly515GlufsTer2 | |
| ENST00000649406.1:c.2579del | ENSP00000497965.1:p.Gly860GlufsTer2 | |
| ENST00000649781.1:c.2579del | ENSP00000497203.1:p.Gly860GlufsTer2 | |
| ENST00000003084.10:c.2762del | ENSP00000003084.6:p.Gly921GlufsTer2 | |
| ENST00000426809.5:c.2672del | ENSP00000389119.1:p.Gly891GlufsTer2 | |
| NM_000492.3:c.2762del , LRG_663t1:c.2762del | NP_000483.3:p.Gly921GlufsTer2 | |
| XM_011515751.1:c.2852del | XP_011514053.1:p.Gly951GlufsTer2 | |
| XM_011515752.1:c.2852del | XP_011514054.1:p.Gly951GlufsTer2 | |
| XM_011515753.1:c.2519del | XP_011514055.1:p.Gly840GlufsTer2 | |
| XM_011515754.1:c.2519del | XP_011514056.1:p.Gly840GlufsTer2 | |
| NM_000492.4:c.2762del MANE Select | NP_000483.3:p.Gly921GlufsTer2 |