Linked Data
dbSNP Id:
rs387906359
MyVariant Identifiers:
chr7:g.117232644_117232645dupAT (hg19)
chr7:g.117592590_117592591dupAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592590_117592591dup , CM000669.2:g.117592590_117592591dup | GRCh38 |
| NC_000007.13:g.117232644_117232645dup , CM000669.1:g.117232644_117232645dup | GRCh37 |
| NC_000007.12:g.117019880_117019881dup | NCBI36 |
| NG_016465.4:g.131807_131808dup , LRG_663:g.131807_131808dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2423_2424dup | ENSP00000497673.2:p.Ser809IlefsTer13 | |
| ENST00000647978.2:c.*2137_*2138dup | ENSP00000497658.1:n.*2137_*2138dup | |
| ENST00000649781.2:c.2240_2241dup | ENSP00000497203.1:p.Ser748IlefsTer13 | |
| ENST00000685018.2:c.2423_2424dup | ENSP00000510194.2:p.Ser809IlefsTer13 | |
| ENST00000687278.2:c.2423_2424dup | ENSP00000509593.2:p.Ser809IlefsTer13 | |
| ENST00000699585.1:c.2423_2424dup | ENSP00000514456.1:p.Ser809IlefsTer13 | |
| ENST00000699598.1:c.2423_2424dup | ENSP00000514467.1:p.Ser809IlefsTer13 | |
| ENST00000699599.1:c.2423_2424dup | ENSP00000514468.1:p.Ser809IlefsTer13 | |
| ENST00000699600.1:c.2423_2424dup | ENSP00000514469.1:p.Ser809IlefsTer13 | |
| ENST00000699601.1:c.*723_*724dup | ENSP00000514470.1:n.*723_*724dup | |
| ENST00000699602.1:c.2423_2424dup | ENSP00000514471.1:p.Ser809IlefsTer13 | |
| ENST00000699604.1:c.*2247_*2248dup | ENSP00000514472.1:n.*2247_*2248dup | |
| ENST00000699605.1:c.1997_1998dup | ENSP00000514473.1:p.Ser667IlefsTer13 | |
| ENST00000687278.1:c.14_15dup | ENSP00000509593.1:p.Ser6IlefsTer13 | |
| ENST00000003084.11:c.2423_2424dup MANE Select | ENSP00000003084.6:p.Ser809IlefsTer13 | |
| ENST00000647720.1:c.73_74dup | ||
| ENST00000647978.1:c.*2137_*2138dup | ENSP00000497658.1:n.*2137_*2138dup | |
| ENST00000648260.1:c.1402-10236_1402-10235dup | ENSP00000497957.1:n.1402-10236_1402-10235... | |
| ENST00000649406.1:c.2240_2241dup | ENSP00000497965.1:p.Ser748IlefsTer13 | |
| ENST00000649781.1:c.2240_2241dup | ENSP00000497203.1:p.Ser748IlefsTer13 | |
| ENST00000003084.10:c.2423_2424dup | ENSP00000003084.6:p.Ser809IlefsTer13 | |
| ENST00000426809.5:c.2333_2334dup | ENSP00000389119.1:p.Ser779IlefsTer13 | |
| NM_000492.3:c.2423_2424dup , LRG_663t1:c.2423_2424dup | NP_000483.3:p.Ser809IlefsTer13 | |
| XM_011515751.1:c.2513_2514dup | XP_011514053.1:p.Ser839IlefsTer13 | |
| XM_011515752.1:c.2513_2514dup | XP_011514054.1:p.Ser839IlefsTer13 | |
| XM_011515753.1:c.2180_2181dup | XP_011514055.1:p.Ser728IlefsTer13 | |
| XM_011515754.1:c.2180_2181dup | XP_011514056.1:p.Ser728IlefsTer13 | |
| NM_000492.4:c.2423_2424dup MANE Select | NP_000483.3:p.Ser809IlefsTer13 |